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NM_007294.4(BRCA1):c.5282T>C (p.Phe1761Ser) AND Hereditary cancer-predisposing syndrome

Germline classification:
Likely pathogenic (2 submissions)
Last evaluated:
Aug 29, 2022
Review status:
2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000131349.17

Allele description [Variation Report for NM_007294.4(BRCA1):c.5282T>C (p.Phe1761Ser)]

NM_007294.4(BRCA1):c.5282T>C (p.Phe1761Ser)

Gene:
BRCA1:BRCA1 DNA repair associated [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17q21.31
Genomic location:
Preferred name:
NM_007294.4(BRCA1):c.5282T>C (p.Phe1761Ser)
HGVS:
  • NC_000017.11:g.43051113A>G
  • NG_005905.2:g.166871T>C
  • NM_001407571.1:c.5069T>C
  • NM_001407581.1:c.5348T>C
  • NM_001407582.1:c.5348T>C
  • NM_001407583.1:c.5345T>C
  • NM_001407585.1:c.5345T>C
  • NM_001407587.1:c.5345T>C
  • NM_001407590.1:c.5342T>C
  • NM_001407591.1:c.5342T>C
  • NM_001407593.1:c.5282T>C
  • NM_001407594.1:c.5282T>C
  • NM_001407596.1:c.5282T>C
  • NM_001407597.1:c.5282T>C
  • NM_001407598.1:c.5282T>C
  • NM_001407602.1:c.5282T>C
  • NM_001407603.1:c.5282T>C
  • NM_001407605.1:c.5282T>C
  • NM_001407610.1:c.5279T>C
  • NM_001407611.1:c.5279T>C
  • NM_001407612.1:c.5279T>C
  • NM_001407613.1:c.5279T>C
  • NM_001407614.1:c.5279T>C
  • NM_001407615.1:c.5279T>C
  • NM_001407616.1:c.5279T>C
  • NM_001407617.1:c.5279T>C
  • NM_001407618.1:c.5279T>C
  • NM_001407619.1:c.5279T>C
  • NM_001407620.1:c.5279T>C
  • NM_001407621.1:c.5279T>C
  • NM_001407622.1:c.5279T>C
  • NM_001407623.1:c.5279T>C
  • NM_001407624.1:c.5279T>C
  • NM_001407625.1:c.5279T>C
  • NM_001407626.1:c.5279T>C
  • NM_001407627.1:c.5276T>C
  • NM_001407628.1:c.5276T>C
  • NM_001407629.1:c.5276T>C
  • NM_001407630.1:c.5276T>C
  • NM_001407631.1:c.5276T>C
  • NM_001407632.1:c.5276T>C
  • NM_001407633.1:c.5276T>C
  • NM_001407634.1:c.5276T>C
  • NM_001407635.1:c.5276T>C
  • NM_001407636.1:c.5276T>C
  • NM_001407637.1:c.5276T>C
  • NM_001407638.1:c.5276T>C
  • NM_001407639.1:c.5276T>C
  • NM_001407640.1:c.5276T>C
  • NM_001407641.1:c.5276T>C
  • NM_001407642.1:c.5276T>C
  • NM_001407644.1:c.5273T>C
  • NM_001407645.1:c.5273T>C
  • NM_001407646.1:c.5270T>C
  • NM_001407647.1:c.5267T>C
  • NM_001407648.1:c.5225T>C
  • NM_001407649.1:c.5222T>C
  • NM_001407652.1:c.5204T>C
  • NM_001407653.1:c.5204T>C
  • NM_001407654.1:c.5204T>C
  • NM_001407655.1:c.5204T>C
  • NM_001407656.1:c.5201T>C
  • NM_001407657.1:c.5201T>C
  • NM_001407658.1:c.5201T>C
  • NM_001407659.1:c.5198T>C
  • NM_001407660.1:c.5198T>C
  • NM_001407661.1:c.5198T>C
  • NM_001407662.1:c.5198T>C
  • NM_001407663.1:c.5198T>C
  • NM_001407664.1:c.5159T>C
  • NM_001407665.1:c.5159T>C
  • NM_001407666.1:c.5159T>C
  • NM_001407667.1:c.5159T>C
  • NM_001407668.1:c.5159T>C
  • NM_001407669.1:c.5159T>C
  • NM_001407670.1:c.5156T>C
  • NM_001407671.1:c.5156T>C
  • NM_001407672.1:c.5156T>C
  • NM_001407673.1:c.5156T>C
  • NM_001407674.1:c.5156T>C
  • NM_001407675.1:c.5156T>C
  • NM_001407676.1:c.5156T>C
  • NM_001407677.1:c.5156T>C
  • NM_001407678.1:c.5156T>C
  • NM_001407679.1:c.5156T>C
  • NM_001407680.1:c.5156T>C
  • NM_001407681.1:c.5153T>C
  • NM_001407682.1:c.5153T>C
  • NM_001407683.1:c.5153T>C
  • NM_001407685.1:c.5153T>C
  • NM_001407686.1:c.5153T>C
  • NM_001407687.1:c.5153T>C
  • NM_001407688.1:c.5153T>C
  • NM_001407689.1:c.5153T>C
  • NM_001407690.1:c.5150T>C
  • NM_001407691.1:c.5150T>C
  • NM_001407692.1:c.5141T>C
  • NM_001407694.1:c.5141T>C
  • NM_001407695.1:c.5141T>C
  • NM_001407696.1:c.5141T>C
  • NM_001407697.1:c.5141T>C
  • NM_001407698.1:c.5141T>C
  • NM_001407724.1:c.5141T>C
  • NM_001407725.1:c.5141T>C
  • NM_001407726.1:c.5141T>C
  • NM_001407727.1:c.5141T>C
  • NM_001407728.1:c.5141T>C
  • NM_001407729.1:c.5141T>C
  • NM_001407730.1:c.5141T>C
  • NM_001407731.1:c.5141T>C
  • NM_001407732.1:c.5138T>C
  • NM_001407733.1:c.5138T>C
  • NM_001407734.1:c.5138T>C
  • NM_001407735.1:c.5138T>C
  • NM_001407736.1:c.5138T>C
  • NM_001407737.1:c.5138T>C
  • NM_001407738.1:c.5138T>C
  • NM_001407739.1:c.5138T>C
  • NM_001407740.1:c.5138T>C
  • NM_001407741.1:c.5138T>C
  • NM_001407742.1:c.5138T>C
  • NM_001407743.1:c.5138T>C
  • NM_001407744.1:c.5138T>C
  • NM_001407745.1:c.5138T>C
  • NM_001407746.1:c.5138T>C
  • NM_001407747.1:c.5138T>C
  • NM_001407748.1:c.5138T>C
  • NM_001407749.1:c.5138T>C
  • NM_001407750.1:c.5138T>C
  • NM_001407751.1:c.5138T>C
  • NM_001407752.1:c.5138T>C
  • NM_001407838.1:c.5135T>C
  • NM_001407839.1:c.5135T>C
  • NM_001407841.1:c.5135T>C
  • NM_001407842.1:c.5135T>C
  • NM_001407843.1:c.5135T>C
  • NM_001407844.1:c.5135T>C
  • NM_001407845.1:c.5135T>C
  • NM_001407846.1:c.5135T>C
  • NM_001407847.1:c.5135T>C
  • NM_001407848.1:c.5135T>C
  • NM_001407849.1:c.5135T>C
  • NM_001407850.1:c.5135T>C
  • NM_001407851.1:c.5135T>C
  • NM_001407852.1:c.5135T>C
  • NM_001407853.1:c.5135T>C
  • NM_001407854.1:c.5282T>C
  • NM_001407858.1:c.5279T>C
  • NM_001407859.1:c.5279T>C
  • NM_001407860.1:c.5279T>C
  • NM_001407861.1:c.5276T>C
  • NM_001407862.1:c.5081T>C
  • NM_001407863.1:c.5078T>C
  • NM_001407874.1:c.5075T>C
  • NM_001407875.1:c.5075T>C
  • NM_001407879.1:c.5072T>C
  • NM_001407881.1:c.5072T>C
  • NM_001407882.1:c.5072T>C
  • NM_001407884.1:c.5072T>C
  • NM_001407885.1:c.5072T>C
  • NM_001407886.1:c.5072T>C
  • NM_001407887.1:c.5072T>C
  • NM_001407889.1:c.5072T>C
  • NM_001407894.1:c.5069T>C
  • NM_001407895.1:c.5069T>C
  • NM_001407896.1:c.5069T>C
  • NM_001407897.1:c.5069T>C
  • NM_001407898.1:c.5069T>C
  • NM_001407899.1:c.5069T>C
  • NM_001407900.1:c.5069T>C
  • NM_001407902.1:c.5069T>C
  • NM_001407904.1:c.5069T>C
  • NM_001407906.1:c.5069T>C
  • NM_001407907.1:c.5069T>C
  • NM_001407908.1:c.5069T>C
  • NM_001407909.1:c.5069T>C
  • NM_001407910.1:c.5069T>C
  • NM_001407915.1:c.5066T>C
  • NM_001407916.1:c.5066T>C
  • NM_001407917.1:c.5066T>C
  • NM_001407918.1:c.5066T>C
  • NM_001407920.1:c.5018T>C
  • NM_001407921.1:c.5018T>C
  • NM_001407922.1:c.5018T>C
  • NM_001407923.1:c.5018T>C
  • NM_001407924.1:c.5018T>C
  • NM_001407925.1:c.5018T>C
  • NM_001407926.1:c.5018T>C
  • NM_001407927.1:c.5015T>C
  • NM_001407928.1:c.5015T>C
  • NM_001407929.1:c.5015T>C
  • NM_001407930.1:c.5015T>C
  • NM_001407931.1:c.5015T>C
  • NM_001407932.1:c.5015T>C
  • NM_001407933.1:c.5015T>C
  • NM_001407934.1:c.5012T>C
  • NM_001407935.1:c.5012T>C
  • NM_001407936.1:c.5012T>C
  • NM_001407937.1:c.5159T>C
  • NM_001407938.1:c.5159T>C
  • NM_001407939.1:c.5156T>C
  • NM_001407940.1:c.5156T>C
  • NM_001407941.1:c.5153T>C
  • NM_001407942.1:c.5141T>C
  • NM_001407943.1:c.5138T>C
  • NM_001407944.1:c.5138T>C
  • NM_001407945.1:c.5138T>C
  • NM_001407946.1:c.4949T>C
  • NM_001407947.1:c.4949T>C
  • NM_001407948.1:c.4949T>C
  • NM_001407949.1:c.4949T>C
  • NM_001407950.1:c.4946T>C
  • NM_001407951.1:c.4946T>C
  • NM_001407952.1:c.4946T>C
  • NM_001407953.1:c.4946T>C
  • NM_001407954.1:c.4946T>C
  • NM_001407955.1:c.4946T>C
  • NM_001407956.1:c.4943T>C
  • NM_001407957.1:c.4943T>C
  • NM_001407958.1:c.4943T>C
  • NM_001407959.1:c.4901T>C
  • NM_001407960.1:c.4898T>C
  • NM_001407962.1:c.4898T>C
  • NM_001407963.1:c.4895T>C
  • NM_001407964.1:c.4820T>C
  • NM_001407965.1:c.4775T>C
  • NM_001407966.1:c.4394T>C
  • NM_001407967.1:c.4391T>C
  • NM_001407968.1:c.2678T>C
  • NM_001407969.1:c.2675T>C
  • NM_001407970.1:c.2039T>C
  • NM_001407971.1:c.2039T>C
  • NM_001407972.1:c.2036T>C
  • NM_001407973.1:c.1973T>C
  • NM_001407974.1:c.1973T>C
  • NM_001407975.1:c.1973T>C
  • NM_001407976.1:c.1973T>C
  • NM_001407977.1:c.1973T>C
  • NM_001407978.1:c.1973T>C
  • NM_001407979.1:c.1970T>C
  • NM_001407980.1:c.1970T>C
  • NM_001407981.1:c.1970T>C
  • NM_001407982.1:c.1970T>C
  • NM_001407983.1:c.1970T>C
  • NM_001407984.1:c.1970T>C
  • NM_001407985.1:c.1970T>C
  • NM_001407986.1:c.1970T>C
  • NM_001407990.1:c.1970T>C
  • NM_001407991.1:c.1970T>C
  • NM_001407992.1:c.1970T>C
  • NM_001407993.1:c.1970T>C
  • NM_001408392.1:c.1967T>C
  • NM_001408396.1:c.1967T>C
  • NM_001408397.1:c.1967T>C
  • NM_001408398.1:c.1967T>C
  • NM_001408399.1:c.1967T>C
  • NM_001408400.1:c.1967T>C
  • NM_001408401.1:c.1967T>C
  • NM_001408402.1:c.1967T>C
  • NM_001408403.1:c.1967T>C
  • NM_001408404.1:c.1967T>C
  • NM_001408406.1:c.1964T>C
  • NM_001408407.1:c.1964T>C
  • NM_001408408.1:c.1964T>C
  • NM_001408409.1:c.1961T>C
  • NM_001408410.1:c.1898T>C
  • NM_001408411.1:c.1895T>C
  • NM_001408412.1:c.1892T>C
  • NM_001408413.1:c.1892T>C
  • NM_001408414.1:c.1892T>C
  • NM_001408415.1:c.1892T>C
  • NM_001408416.1:c.1892T>C
  • NM_001408418.1:c.1856T>C
  • NM_001408419.1:c.1856T>C
  • NM_001408420.1:c.1856T>C
  • NM_001408421.1:c.1853T>C
  • NM_001408422.1:c.1853T>C
  • NM_001408423.1:c.1853T>C
  • NM_001408424.1:c.1853T>C
  • NM_001408425.1:c.1850T>C
  • NM_001408426.1:c.1850T>C
  • NM_001408427.1:c.1850T>C
  • NM_001408428.1:c.1850T>C
  • NM_001408429.1:c.1850T>C
  • NM_001408430.1:c.1850T>C
  • NM_001408431.1:c.1850T>C
  • NM_001408432.1:c.1847T>C
  • NM_001408433.1:c.1847T>C
  • NM_001408434.1:c.1847T>C
  • NM_001408435.1:c.1847T>C
  • NM_001408436.1:c.1847T>C
  • NM_001408437.1:c.1847T>C
  • NM_001408438.1:c.1847T>C
  • NM_001408439.1:c.1847T>C
  • NM_001408440.1:c.1847T>C
  • NM_001408441.1:c.1847T>C
  • NM_001408442.1:c.1847T>C
  • NM_001408443.1:c.1847T>C
  • NM_001408444.1:c.1847T>C
  • NM_001408445.1:c.1844T>C
  • NM_001408446.1:c.1844T>C
  • NM_001408447.1:c.1844T>C
  • NM_001408448.1:c.1844T>C
  • NM_001408450.1:c.1844T>C
  • NM_001408451.1:c.1838T>C
  • NM_001408452.1:c.1832T>C
  • NM_001408453.1:c.1832T>C
  • NM_001408454.1:c.1832T>C
  • NM_001408455.1:c.1832T>C
  • NM_001408456.1:c.1832T>C
  • NM_001408457.1:c.1832T>C
  • NM_001408458.1:c.1829T>C
  • NM_001408459.1:c.1829T>C
  • NM_001408460.1:c.1829T>C
  • NM_001408461.1:c.1829T>C
  • NM_001408462.1:c.1829T>C
  • NM_001408463.1:c.1829T>C
  • NM_001408464.1:c.1829T>C
  • NM_001408465.1:c.1829T>C
  • NM_001408466.1:c.1829T>C
  • NM_001408467.1:c.1829T>C
  • NM_001408468.1:c.1826T>C
  • NM_001408469.1:c.1826T>C
  • NM_001408470.1:c.1826T>C
  • NM_001408472.1:c.1970T>C
  • NM_001408473.1:c.1967T>C
  • NM_001408474.1:c.1772T>C
  • NM_001408475.1:c.1769T>C
  • NM_001408476.1:c.1769T>C
  • NM_001408478.1:c.1763T>C
  • NM_001408479.1:c.1763T>C
  • NM_001408480.1:c.1763T>C
  • NM_001408481.1:c.1760T>C
  • NM_001408482.1:c.1760T>C
  • NM_001408483.1:c.1760T>C
  • NM_001408484.1:c.1760T>C
  • NM_001408485.1:c.1760T>C
  • NM_001408489.1:c.1760T>C
  • NM_001408490.1:c.1760T>C
  • NM_001408491.1:c.1760T>C
  • NM_001408492.1:c.1757T>C
  • NM_001408493.1:c.1757T>C
  • NM_001408494.1:c.1733T>C
  • NM_001408495.1:c.1727T>C
  • NM_001408496.1:c.1709T>C
  • NM_001408497.1:c.1709T>C
  • NM_001408498.1:c.1709T>C
  • NM_001408499.1:c.1709T>C
  • NM_001408500.1:c.1709T>C
  • NM_001408501.1:c.1709T>C
  • NM_001408502.1:c.1706T>C
  • NM_001408503.1:c.1706T>C
  • NM_001408504.1:c.1706T>C
  • NM_001408505.1:c.1703T>C
  • NM_001408506.1:c.1646T>C
  • NM_001408507.1:c.1643T>C
  • NM_001408508.1:c.1634T>C
  • NM_001408509.1:c.1631T>C
  • NM_001408510.1:c.1592T>C
  • NM_001408511.1:c.1589T>C
  • NM_001408512.1:c.1469T>C
  • NM_001408513.1:c.1442T>C
  • NM_001408514.1:c.1046T>C
  • NM_007294.4:c.5282T>CMANE SELECT
  • NM_007297.4:c.5141T>C
  • NM_007298.4:c.1970T>C
  • NM_007299.4:c.1970T>C
  • NM_007300.4:c.5345T>C
  • NM_007304.2:c.1970T>C
  • NP_001394500.1:p.Phe1690Ser
  • NP_001394510.1:p.Phe1783Ser
  • NP_001394511.1:p.Phe1783Ser
  • NP_001394512.1:p.Phe1782Ser
  • NP_001394514.1:p.Phe1782Ser
  • NP_001394516.1:p.Phe1782Ser
  • NP_001394519.1:p.Phe1781Ser
  • NP_001394520.1:p.Phe1781Ser
  • NP_001394522.1:p.Phe1761Ser
  • NP_001394523.1:p.Phe1761Ser
  • NP_001394525.1:p.Phe1761Ser
  • NP_001394526.1:p.Phe1761Ser
  • NP_001394527.1:p.Phe1761Ser
  • NP_001394531.1:p.Phe1761Ser
  • NP_001394532.1:p.Phe1761Ser
  • NP_001394534.1:p.Phe1761Ser
  • NP_001394539.1:p.Phe1760Ser
  • NP_001394540.1:p.Phe1760Ser
  • NP_001394541.1:p.Phe1760Ser
  • NP_001394542.1:p.Phe1760Ser
  • NP_001394543.1:p.Phe1760Ser
  • NP_001394544.1:p.Phe1760Ser
  • NP_001394545.1:p.Phe1760Ser
  • NP_001394546.1:p.Phe1760Ser
  • NP_001394547.1:p.Phe1760Ser
  • NP_001394548.1:p.Phe1760Ser
  • NP_001394549.1:p.Phe1760Ser
  • NP_001394550.1:p.Phe1760Ser
  • NP_001394551.1:p.Phe1760Ser
  • NP_001394552.1:p.Phe1760Ser
  • NP_001394553.1:p.Phe1760Ser
  • NP_001394554.1:p.Phe1760Ser
  • NP_001394555.1:p.Phe1760Ser
  • NP_001394556.1:p.Phe1759Ser
  • NP_001394557.1:p.Phe1759Ser
  • NP_001394558.1:p.Phe1759Ser
  • NP_001394559.1:p.Phe1759Ser
  • NP_001394560.1:p.Phe1759Ser
  • NP_001394561.1:p.Phe1759Ser
  • NP_001394562.1:p.Phe1759Ser
  • NP_001394563.1:p.Phe1759Ser
  • NP_001394564.1:p.Phe1759Ser
  • NP_001394565.1:p.Phe1759Ser
  • NP_001394566.1:p.Phe1759Ser
  • NP_001394567.1:p.Phe1759Ser
  • NP_001394568.1:p.Phe1759Ser
  • NP_001394569.1:p.Phe1759Ser
  • NP_001394570.1:p.Phe1759Ser
  • NP_001394571.1:p.Phe1759Ser
  • NP_001394573.1:p.Phe1758Ser
  • NP_001394574.1:p.Phe1758Ser
  • NP_001394575.1:p.Phe1757Ser
  • NP_001394576.1:p.Phe1756Ser
  • NP_001394577.1:p.Phe1742Ser
  • NP_001394578.1:p.Phe1741Ser
  • NP_001394581.1:p.Phe1735Ser
  • NP_001394582.1:p.Phe1735Ser
  • NP_001394583.1:p.Phe1735Ser
  • NP_001394584.1:p.Phe1735Ser
  • NP_001394585.1:p.Phe1734Ser
  • NP_001394586.1:p.Phe1734Ser
  • NP_001394587.1:p.Phe1734Ser
  • NP_001394588.1:p.Phe1733Ser
  • NP_001394589.1:p.Phe1733Ser
  • NP_001394590.1:p.Phe1733Ser
  • NP_001394591.1:p.Phe1733Ser
  • NP_001394592.1:p.Phe1733Ser
  • NP_001394593.1:p.Phe1720Ser
  • NP_001394594.1:p.Phe1720Ser
  • NP_001394595.1:p.Phe1720Ser
  • NP_001394596.1:p.Phe1720Ser
  • NP_001394597.1:p.Phe1720Ser
  • NP_001394598.1:p.Phe1720Ser
  • NP_001394599.1:p.Phe1719Ser
  • NP_001394600.1:p.Phe1719Ser
  • NP_001394601.1:p.Phe1719Ser
  • NP_001394602.1:p.Phe1719Ser
  • NP_001394603.1:p.Phe1719Ser
  • NP_001394604.1:p.Phe1719Ser
  • NP_001394605.1:p.Phe1719Ser
  • NP_001394606.1:p.Phe1719Ser
  • NP_001394607.1:p.Phe1719Ser
  • NP_001394608.1:p.Phe1719Ser
  • NP_001394609.1:p.Phe1719Ser
  • NP_001394610.1:p.Phe1718Ser
  • NP_001394611.1:p.Phe1718Ser
  • NP_001394612.1:p.Phe1718Ser
  • NP_001394614.1:p.Phe1718Ser
  • NP_001394615.1:p.Phe1718Ser
  • NP_001394616.1:p.Phe1718Ser
  • NP_001394617.1:p.Phe1718Ser
  • NP_001394618.1:p.Phe1718Ser
  • NP_001394619.1:p.Phe1717Ser
  • NP_001394620.1:p.Phe1717Ser
  • NP_001394621.1:p.Phe1714Ser
  • NP_001394623.1:p.Phe1714Ser
  • NP_001394624.1:p.Phe1714Ser
  • NP_001394625.1:p.Phe1714Ser
  • NP_001394626.1:p.Phe1714Ser
  • NP_001394627.1:p.Phe1714Ser
  • NP_001394653.1:p.Phe1714Ser
  • NP_001394654.1:p.Phe1714Ser
  • NP_001394655.1:p.Phe1714Ser
  • NP_001394656.1:p.Phe1714Ser
  • NP_001394657.1:p.Phe1714Ser
  • NP_001394658.1:p.Phe1714Ser
  • NP_001394659.1:p.Phe1714Ser
  • NP_001394660.1:p.Phe1714Ser
  • NP_001394661.1:p.Phe1713Ser
  • NP_001394662.1:p.Phe1713Ser
  • NP_001394663.1:p.Phe1713Ser
  • NP_001394664.1:p.Phe1713Ser
  • NP_001394665.1:p.Phe1713Ser
  • NP_001394666.1:p.Phe1713Ser
  • NP_001394667.1:p.Phe1713Ser
  • NP_001394668.1:p.Phe1713Ser
  • NP_001394669.1:p.Phe1713Ser
  • NP_001394670.1:p.Phe1713Ser
  • NP_001394671.1:p.Phe1713Ser
  • NP_001394672.1:p.Phe1713Ser
  • NP_001394673.1:p.Phe1713Ser
  • NP_001394674.1:p.Phe1713Ser
  • NP_001394675.1:p.Phe1713Ser
  • NP_001394676.1:p.Phe1713Ser
  • NP_001394677.1:p.Phe1713Ser
  • NP_001394678.1:p.Phe1713Ser
  • NP_001394679.1:p.Phe1713Ser
  • NP_001394680.1:p.Phe1713Ser
  • NP_001394681.1:p.Phe1713Ser
  • NP_001394767.1:p.Phe1712Ser
  • NP_001394768.1:p.Phe1712Ser
  • NP_001394770.1:p.Phe1712Ser
  • NP_001394771.1:p.Phe1712Ser
  • NP_001394772.1:p.Phe1712Ser
  • NP_001394773.1:p.Phe1712Ser
  • NP_001394774.1:p.Phe1712Ser
  • NP_001394775.1:p.Phe1712Ser
  • NP_001394776.1:p.Phe1712Ser
  • NP_001394777.1:p.Phe1712Ser
  • NP_001394778.1:p.Phe1712Ser
  • NP_001394779.1:p.Phe1712Ser
  • NP_001394780.1:p.Phe1712Ser
  • NP_001394781.1:p.Phe1712Ser
  • NP_001394782.1:p.Phe1712Ser
  • NP_001394783.1:p.Phe1761Ser
  • NP_001394787.1:p.Phe1760Ser
  • NP_001394788.1:p.Phe1760Ser
  • NP_001394789.1:p.Phe1760Ser
  • NP_001394790.1:p.Phe1759Ser
  • NP_001394791.1:p.Phe1694Ser
  • NP_001394792.1:p.Phe1693Ser
  • NP_001394803.1:p.Phe1692Ser
  • NP_001394804.1:p.Phe1692Ser
  • NP_001394808.1:p.Phe1691Ser
  • NP_001394810.1:p.Phe1691Ser
  • NP_001394811.1:p.Phe1691Ser
  • NP_001394813.1:p.Phe1691Ser
  • NP_001394814.1:p.Phe1691Ser
  • NP_001394815.1:p.Phe1691Ser
  • NP_001394816.1:p.Phe1691Ser
  • NP_001394818.1:p.Phe1691Ser
  • NP_001394823.1:p.Phe1690Ser
  • NP_001394824.1:p.Phe1690Ser
  • NP_001394825.1:p.Phe1690Ser
  • NP_001394826.1:p.Phe1690Ser
  • NP_001394827.1:p.Phe1690Ser
  • NP_001394828.1:p.Phe1690Ser
  • NP_001394829.1:p.Phe1690Ser
  • NP_001394831.1:p.Phe1690Ser
  • NP_001394833.1:p.Phe1690Ser
  • NP_001394835.1:p.Phe1690Ser
  • NP_001394836.1:p.Phe1690Ser
  • NP_001394837.1:p.Phe1690Ser
  • NP_001394838.1:p.Phe1690Ser
  • NP_001394839.1:p.Phe1690Ser
  • NP_001394844.1:p.Phe1689Ser
  • NP_001394845.1:p.Phe1689Ser
  • NP_001394846.1:p.Phe1689Ser
  • NP_001394847.1:p.Phe1689Ser
  • NP_001394849.1:p.Phe1673Ser
  • NP_001394850.1:p.Phe1673Ser
  • NP_001394851.1:p.Phe1673Ser
  • NP_001394852.1:p.Phe1673Ser
  • NP_001394853.1:p.Phe1673Ser
  • NP_001394854.1:p.Phe1673Ser
  • NP_001394855.1:p.Phe1673Ser
  • NP_001394856.1:p.Phe1672Ser
  • NP_001394857.1:p.Phe1672Ser
  • NP_001394858.1:p.Phe1672Ser
  • NP_001394859.1:p.Phe1672Ser
  • NP_001394860.1:p.Phe1672Ser
  • NP_001394861.1:p.Phe1672Ser
  • NP_001394862.1:p.Phe1672Ser
  • NP_001394863.1:p.Phe1671Ser
  • NP_001394864.1:p.Phe1671Ser
  • NP_001394865.1:p.Phe1671Ser
  • NP_001394866.1:p.Phe1720Ser
  • NP_001394867.1:p.Phe1720Ser
  • NP_001394868.1:p.Phe1719Ser
  • NP_001394869.1:p.Phe1719Ser
  • NP_001394870.1:p.Phe1718Ser
  • NP_001394871.1:p.Phe1714Ser
  • NP_001394872.1:p.Phe1713Ser
  • NP_001394873.1:p.Phe1713Ser
  • NP_001394874.1:p.Phe1713Ser
  • NP_001394875.1:p.Phe1650Ser
  • NP_001394876.1:p.Phe1650Ser
  • NP_001394877.1:p.Phe1650Ser
  • NP_001394878.1:p.Phe1650Ser
  • NP_001394879.1:p.Phe1649Ser
  • NP_001394880.1:p.Phe1649Ser
  • NP_001394881.1:p.Phe1649Ser
  • NP_001394882.1:p.Phe1649Ser
  • NP_001394883.1:p.Phe1649Ser
  • NP_001394884.1:p.Phe1649Ser
  • NP_001394885.1:p.Phe1648Ser
  • NP_001394886.1:p.Phe1648Ser
  • NP_001394887.1:p.Phe1648Ser
  • NP_001394888.1:p.Phe1634Ser
  • NP_001394889.1:p.Phe1633Ser
  • NP_001394891.1:p.Phe1633Ser
  • NP_001394892.1:p.Phe1632Ser
  • NP_001394893.1:p.Phe1607Ser
  • NP_001394894.1:p.Phe1592Ser
  • NP_001394895.1:p.Phe1465Ser
  • NP_001394896.1:p.Phe1464Ser
  • NP_001394897.1:p.Phe893Ser
  • NP_001394898.1:p.Phe892Ser
  • NP_001394899.1:p.Phe680Ser
  • NP_001394900.1:p.Phe680Ser
  • NP_001394901.1:p.Phe679Ser
  • NP_001394902.1:p.Phe658Ser
  • NP_001394903.1:p.Phe658Ser
  • NP_001394904.1:p.Phe658Ser
  • NP_001394905.1:p.Phe658Ser
  • NP_001394906.1:p.Phe658Ser
  • NP_001394907.1:p.Phe658Ser
  • NP_001394908.1:p.Phe657Ser
  • NP_001394909.1:p.Phe657Ser
  • NP_001394910.1:p.Phe657Ser
  • NP_001394911.1:p.Phe657Ser
  • NP_001394912.1:p.Phe657Ser
  • NP_001394913.1:p.Phe657Ser
  • NP_001394914.1:p.Phe657Ser
  • NP_001394915.1:p.Phe657Ser
  • NP_001394919.1:p.Phe657Ser
  • NP_001394920.1:p.Phe657Ser
  • NP_001394921.1:p.Phe657Ser
  • NP_001394922.1:p.Phe657Ser
  • NP_001395321.1:p.Phe656Ser
  • NP_001395325.1:p.Phe656Ser
  • NP_001395326.1:p.Phe656Ser
  • NP_001395327.1:p.Phe656Ser
  • NP_001395328.1:p.Phe656Ser
  • NP_001395329.1:p.Phe656Ser
  • NP_001395330.1:p.Phe656Ser
  • NP_001395331.1:p.Phe656Ser
  • NP_001395332.1:p.Phe656Ser
  • NP_001395333.1:p.Phe656Ser
  • NP_001395335.1:p.Phe655Ser
  • NP_001395336.1:p.Phe655Ser
  • NP_001395337.1:p.Phe655Ser
  • NP_001395338.1:p.Phe654Ser
  • NP_001395339.1:p.Phe633Ser
  • NP_001395340.1:p.Phe632Ser
  • NP_001395341.1:p.Phe631Ser
  • NP_001395342.1:p.Phe631Ser
  • NP_001395343.1:p.Phe631Ser
  • NP_001395344.1:p.Phe631Ser
  • NP_001395345.1:p.Phe631Ser
  • NP_001395347.1:p.Phe619Ser
  • NP_001395348.1:p.Phe619Ser
  • NP_001395349.1:p.Phe619Ser
  • NP_001395350.1:p.Phe618Ser
  • NP_001395351.1:p.Phe618Ser
  • NP_001395352.1:p.Phe618Ser
  • NP_001395353.1:p.Phe618Ser
  • NP_001395354.1:p.Phe617Ser
  • NP_001395355.1:p.Phe617Ser
  • NP_001395356.1:p.Phe617Ser
  • NP_001395357.1:p.Phe617Ser
  • NP_001395358.1:p.Phe617Ser
  • NP_001395359.1:p.Phe617Ser
  • NP_001395360.1:p.Phe617Ser
  • NP_001395361.1:p.Phe616Ser
  • NP_001395362.1:p.Phe616Ser
  • NP_001395363.1:p.Phe616Ser
  • NP_001395364.1:p.Phe616Ser
  • NP_001395365.1:p.Phe616Ser
  • NP_001395366.1:p.Phe616Ser
  • NP_001395367.1:p.Phe616Ser
  • NP_001395368.1:p.Phe616Ser
  • NP_001395369.1:p.Phe616Ser
  • NP_001395370.1:p.Phe616Ser
  • NP_001395371.1:p.Phe616Ser
  • NP_001395372.1:p.Phe616Ser
  • NP_001395373.1:p.Phe616Ser
  • NP_001395374.1:p.Phe615Ser
  • NP_001395375.1:p.Phe615Ser
  • NP_001395376.1:p.Phe615Ser
  • NP_001395377.1:p.Phe615Ser
  • NP_001395379.1:p.Phe615Ser
  • NP_001395380.1:p.Phe613Ser
  • NP_001395381.1:p.Phe611Ser
  • NP_001395382.1:p.Phe611Ser
  • NP_001395383.1:p.Phe611Ser
  • NP_001395384.1:p.Phe611Ser
  • NP_001395385.1:p.Phe611Ser
  • NP_001395386.1:p.Phe611Ser
  • NP_001395387.1:p.Phe610Ser
  • NP_001395388.1:p.Phe610Ser
  • NP_001395389.1:p.Phe610Ser
  • NP_001395390.1:p.Phe610Ser
  • NP_001395391.1:p.Phe610Ser
  • NP_001395392.1:p.Phe610Ser
  • NP_001395393.1:p.Phe610Ser
  • NP_001395394.1:p.Phe610Ser
  • NP_001395395.1:p.Phe610Ser
  • NP_001395396.1:p.Phe610Ser
  • NP_001395397.1:p.Phe609Ser
  • NP_001395398.1:p.Phe609Ser
  • NP_001395399.1:p.Phe609Ser
  • NP_001395401.1:p.Phe657Ser
  • NP_001395402.1:p.Phe656Ser
  • NP_001395403.1:p.Phe591Ser
  • NP_001395404.1:p.Phe590Ser
  • NP_001395405.1:p.Phe590Ser
  • NP_001395407.1:p.Phe588Ser
  • NP_001395408.1:p.Phe588Ser
  • NP_001395409.1:p.Phe588Ser
  • NP_001395410.1:p.Phe587Ser
  • NP_001395411.1:p.Phe587Ser
  • NP_001395412.1:p.Phe587Ser
  • NP_001395413.1:p.Phe587Ser
  • NP_001395414.1:p.Phe587Ser
  • NP_001395418.1:p.Phe587Ser
  • NP_001395419.1:p.Phe587Ser
  • NP_001395420.1:p.Phe587Ser
  • NP_001395421.1:p.Phe586Ser
  • NP_001395422.1:p.Phe586Ser
  • NP_001395423.1:p.Phe578Ser
  • NP_001395424.1:p.Phe576Ser
  • NP_001395425.1:p.Phe570Ser
  • NP_001395426.1:p.Phe570Ser
  • NP_001395427.1:p.Phe570Ser
  • NP_001395428.1:p.Phe570Ser
  • NP_001395429.1:p.Phe570Ser
  • NP_001395430.1:p.Phe570Ser
  • NP_001395431.1:p.Phe569Ser
  • NP_001395432.1:p.Phe569Ser
  • NP_001395433.1:p.Phe569Ser
  • NP_001395434.1:p.Phe568Ser
  • NP_001395435.1:p.Phe549Ser
  • NP_001395436.1:p.Phe548Ser
  • NP_001395437.1:p.Phe545Ser
  • NP_001395438.1:p.Phe544Ser
  • NP_001395439.1:p.Phe531Ser
  • NP_001395440.1:p.Phe530Ser
  • NP_001395441.1:p.Phe490Ser
  • NP_001395442.1:p.Phe481Ser
  • NP_001395443.1:p.Phe349Ser
  • NP_009225.1:p.Phe1761Ser
  • NP_009225.1:p.Phe1761Ser
  • NP_009228.2:p.Phe1714Ser
  • NP_009229.2:p.Phe657Ser
  • NP_009229.2:p.Phe657Ser
  • NP_009230.2:p.Phe657Ser
  • NP_009231.2:p.Phe1782Ser
  • NP_009235.2:p.Phe657Ser
  • LRG_292t1:c.5282T>C
  • LRG_292:g.166871T>C
  • LRG_292p1:p.Phe1761Ser
  • NC_000017.10:g.41203130A>G
  • NM_007294.3:c.5282T>C
  • NM_007298.3:c.1970T>C
  • NR_027676.2:n.5459T>C
  • U14680.1:n.5401T>C
  • p.F1761S
Protein change:
F1464S
Links:
dbSNP: rs80356905
NCBI 1000 Genomes Browser:
rs80356905
Molecular consequence:
  • NM_001407571.1:c.5069T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407581.1:c.5348T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407582.1:c.5348T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407583.1:c.5345T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407585.1:c.5345T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407587.1:c.5345T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407590.1:c.5342T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407591.1:c.5342T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407593.1:c.5282T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407594.1:c.5282T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407596.1:c.5282T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407597.1:c.5282T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407598.1:c.5282T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407602.1:c.5282T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407603.1:c.5282T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407605.1:c.5282T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407610.1:c.5279T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407611.1:c.5279T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407612.1:c.5279T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407613.1:c.5279T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407614.1:c.5279T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407615.1:c.5279T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407616.1:c.5279T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407617.1:c.5279T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407618.1:c.5279T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407619.1:c.5279T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407620.1:c.5279T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407621.1:c.5279T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407622.1:c.5279T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407623.1:c.5279T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407624.1:c.5279T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407625.1:c.5279T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407626.1:c.5279T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407627.1:c.5276T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407628.1:c.5276T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407629.1:c.5276T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407630.1:c.5276T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407631.1:c.5276T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407632.1:c.5276T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407633.1:c.5276T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407634.1:c.5276T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407635.1:c.5276T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407636.1:c.5276T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407637.1:c.5276T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407638.1:c.5276T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407639.1:c.5276T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407640.1:c.5276T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407641.1:c.5276T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407642.1:c.5276T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407644.1:c.5273T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407645.1:c.5273T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407646.1:c.5270T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407647.1:c.5267T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407648.1:c.5225T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407649.1:c.5222T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407652.1:c.5204T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407653.1:c.5204T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407654.1:c.5204T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407655.1:c.5204T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407656.1:c.5201T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407657.1:c.5201T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407658.1:c.5201T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407659.1:c.5198T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407660.1:c.5198T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407661.1:c.5198T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407662.1:c.5198T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407663.1:c.5198T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407664.1:c.5159T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407665.1:c.5159T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407666.1:c.5159T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407667.1:c.5159T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407668.1:c.5159T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407669.1:c.5159T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407670.1:c.5156T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407671.1:c.5156T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407672.1:c.5156T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407673.1:c.5156T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407674.1:c.5156T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407675.1:c.5156T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407676.1:c.5156T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407677.1:c.5156T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407678.1:c.5156T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407679.1:c.5156T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407680.1:c.5156T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407681.1:c.5153T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407682.1:c.5153T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407683.1:c.5153T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407685.1:c.5153T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407686.1:c.5153T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407687.1:c.5153T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407688.1:c.5153T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407689.1:c.5153T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407690.1:c.5150T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407691.1:c.5150T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407692.1:c.5141T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407694.1:c.5141T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407695.1:c.5141T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407696.1:c.5141T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407697.1:c.5141T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407698.1:c.5141T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407724.1:c.5141T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407725.1:c.5141T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407726.1:c.5141T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407727.1:c.5141T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407728.1:c.5141T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407729.1:c.5141T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407730.1:c.5141T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407731.1:c.5141T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407732.1:c.5138T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407733.1:c.5138T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407734.1:c.5138T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407735.1:c.5138T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407736.1:c.5138T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407737.1:c.5138T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407738.1:c.5138T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407739.1:c.5138T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407740.1:c.5138T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407741.1:c.5138T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407742.1:c.5138T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407743.1:c.5138T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407744.1:c.5138T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407745.1:c.5138T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407746.1:c.5138T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407747.1:c.5138T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407748.1:c.5138T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407749.1:c.5138T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407750.1:c.5138T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407751.1:c.5138T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407752.1:c.5138T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407838.1:c.5135T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407839.1:c.5135T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407841.1:c.5135T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407842.1:c.5135T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407843.1:c.5135T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407844.1:c.5135T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407845.1:c.5135T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407846.1:c.5135T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407847.1:c.5135T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407848.1:c.5135T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407849.1:c.5135T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407850.1:c.5135T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407851.1:c.5135T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407852.1:c.5135T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407853.1:c.5135T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407854.1:c.5282T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407858.1:c.5279T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407859.1:c.5279T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407860.1:c.5279T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407861.1:c.5276T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407862.1:c.5081T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407863.1:c.5078T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407874.1:c.5075T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407875.1:c.5075T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407879.1:c.5072T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407881.1:c.5072T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407882.1:c.5072T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407884.1:c.5072T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407885.1:c.5072T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407886.1:c.5072T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407887.1:c.5072T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407889.1:c.5072T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407894.1:c.5069T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407895.1:c.5069T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407896.1:c.5069T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407897.1:c.5069T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407898.1:c.5069T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407899.1:c.5069T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407900.1:c.5069T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407902.1:c.5069T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407904.1:c.5069T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407906.1:c.5069T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407907.1:c.5069T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407908.1:c.5069T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407909.1:c.5069T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407910.1:c.5069T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407915.1:c.5066T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407916.1:c.5066T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407917.1:c.5066T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407918.1:c.5066T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407920.1:c.5018T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407921.1:c.5018T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407922.1:c.5018T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407923.1:c.5018T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407924.1:c.5018T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407925.1:c.5018T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407926.1:c.5018T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407927.1:c.5015T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407928.1:c.5015T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407929.1:c.5015T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407930.1:c.5015T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407931.1:c.5015T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407932.1:c.5015T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407933.1:c.5015T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407934.1:c.5012T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407935.1:c.5012T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407936.1:c.5012T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407937.1:c.5159T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407938.1:c.5159T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407939.1:c.5156T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407940.1:c.5156T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407941.1:c.5153T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407942.1:c.5141T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407943.1:c.5138T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407944.1:c.5138T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407945.1:c.5138T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407946.1:c.4949T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407947.1:c.4949T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407948.1:c.4949T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407949.1:c.4949T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407950.1:c.4946T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407951.1:c.4946T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407952.1:c.4946T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407953.1:c.4946T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407954.1:c.4946T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407955.1:c.4946T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407956.1:c.4943T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407957.1:c.4943T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407958.1:c.4943T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407959.1:c.4901T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407960.1:c.4898T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407962.1:c.4898T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407963.1:c.4895T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407964.1:c.4820T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407965.1:c.4775T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407966.1:c.4394T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407967.1:c.4391T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407968.1:c.2678T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407969.1:c.2675T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407970.1:c.2039T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407971.1:c.2039T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407972.1:c.2036T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407973.1:c.1973T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407974.1:c.1973T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407975.1:c.1973T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407976.1:c.1973T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407977.1:c.1973T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407978.1:c.1973T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407979.1:c.1970T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407980.1:c.1970T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407981.1:c.1970T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407982.1:c.1970T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407983.1:c.1970T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407984.1:c.1970T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407985.1:c.1970T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407986.1:c.1970T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407990.1:c.1970T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407991.1:c.1970T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407992.1:c.1970T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407993.1:c.1970T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408392.1:c.1967T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408396.1:c.1967T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408397.1:c.1967T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408398.1:c.1967T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408399.1:c.1967T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408400.1:c.1967T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408401.1:c.1967T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408402.1:c.1967T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408403.1:c.1967T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408404.1:c.1967T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408406.1:c.1964T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408407.1:c.1964T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408408.1:c.1964T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408409.1:c.1961T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408410.1:c.1898T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408411.1:c.1895T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408412.1:c.1892T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408413.1:c.1892T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408414.1:c.1892T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408415.1:c.1892T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408416.1:c.1892T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408418.1:c.1856T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408419.1:c.1856T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408420.1:c.1856T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408421.1:c.1853T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408422.1:c.1853T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408423.1:c.1853T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408424.1:c.1853T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408425.1:c.1850T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408426.1:c.1850T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408427.1:c.1850T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408428.1:c.1850T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408429.1:c.1850T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408430.1:c.1850T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408431.1:c.1850T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408432.1:c.1847T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408433.1:c.1847T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408434.1:c.1847T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408435.1:c.1847T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408436.1:c.1847T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408437.1:c.1847T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408438.1:c.1847T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408439.1:c.1847T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408440.1:c.1847T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408441.1:c.1847T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408442.1:c.1847T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408443.1:c.1847T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408444.1:c.1847T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408445.1:c.1844T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408446.1:c.1844T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408447.1:c.1844T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408448.1:c.1844T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408450.1:c.1844T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408451.1:c.1838T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408452.1:c.1832T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408453.1:c.1832T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408454.1:c.1832T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408455.1:c.1832T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408456.1:c.1832T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408457.1:c.1832T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408458.1:c.1829T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408459.1:c.1829T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408460.1:c.1829T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408461.1:c.1829T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408462.1:c.1829T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408463.1:c.1829T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408464.1:c.1829T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408465.1:c.1829T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408466.1:c.1829T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408467.1:c.1829T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408468.1:c.1826T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408469.1:c.1826T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408470.1:c.1826T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408472.1:c.1970T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408473.1:c.1967T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408474.1:c.1772T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408475.1:c.1769T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408476.1:c.1769T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408478.1:c.1763T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408479.1:c.1763T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408480.1:c.1763T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408481.1:c.1760T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408482.1:c.1760T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408483.1:c.1760T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408484.1:c.1760T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408485.1:c.1760T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408489.1:c.1760T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408490.1:c.1760T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408491.1:c.1760T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408492.1:c.1757T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408493.1:c.1757T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408494.1:c.1733T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408495.1:c.1727T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408496.1:c.1709T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408497.1:c.1709T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408498.1:c.1709T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408499.1:c.1709T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408500.1:c.1709T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408501.1:c.1709T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408502.1:c.1706T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408503.1:c.1706T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408504.1:c.1706T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408505.1:c.1703T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408506.1:c.1646T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408507.1:c.1643T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408508.1:c.1634T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408509.1:c.1631T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408510.1:c.1592T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408511.1:c.1589T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408512.1:c.1469T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408513.1:c.1442T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408514.1:c.1046T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007294.4:c.5282T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007297.4:c.5141T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007298.4:c.1970T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007299.4:c.1970T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007300.4:c.5345T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007304.2:c.1970T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NR_027676.2:n.5459T>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
Functional consequence:
functionally_abnormal [Sequence Ontology: SO:0002218] - Comment(s)

Condition(s)

Name:
Hereditary cancer-predisposing syndrome
Synonyms:
Neoplastic Syndromes, Hereditary; Tumor predisposition; Cancer predisposition; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0015356; MeSH: D009386; MedGen: C0027672

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000186324Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Likely pathogenic
(Jun 21, 2018) 		germlineclinical testing

PubMed (5)
[See all records that cite these PMIDs]

Citation Link,

SCV001357318Color Diagnostics, LLC DBA Color Health
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely pathogenic
(Aug 29, 2022) 		germlineclinical testing

PubMed (8)
[See all records that cite these PMIDs]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Structural basis for cell cycle checkpoint control by the BRCA1-CtIP complex.

Varma AK, Brown RS, Birrane G, Ladias JA.

Biochemistry. 2005 Aug 23;44(33):10941-6.

PubMed [citation]
PMID:
16101277

Functional assays provide a robust tool for the clinical annotation of genetic variants of uncertain significance.

Woods NT, Baskin R, Golubeva V, Jhuraney A, De-Gregoriis G, Vaclova T, Goldgar DE, Couch FJ, Carvalho MA, Iversen ES, Monteiro AN.

NPJ Genom Med. 2016;1. doi:pii: 16001. 10.1038/npjgenmed.2016.1. Epub 2016 Mar 2.

PubMed [citation]
PMID:
28781887
PMCID:
PMC5539989
See all PubMed Citations (10)

Details of each submission

From Ambry Genetics, SCV000186324.8

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (5)

Description

The p.F1761S variant (also known as c.5282T>C), located in coding exon 19 of the BRCA1 gene, results from a T to C substitution at nucleotide position 5282. The phenylalanine at codon 1761 is replaced by serine, an amino acid with highly dissimilar properties. This alteration was detected in one individual from a cohort of 135 Japanese patients suspected of having HBOC (Sugano K et al. Cancer Sci. 2008 Oct;99:1967-76). This alteration was also severely compromised in multiple functional assays including in binding activity, transcription activation and binding specificity (Lee MS et al. Cancer Res. 2010 Jun;70:4880-90; Hayes F et al. Cancer Res. 2000 May;60:2411-8). Internal structural analysis identified this alteration as being within a mutational hotspot within the BRCT2 domain and predicts that this substitution is likely to disturb the local structure in a manner that is comparable to other nearby pathogenic alterations (Ambry internal data; Varma AK et al. Biochemistry. 2005 Aug;44:10941-6). This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Based on the majority of available evidence to date, this variant is likely to be pathogenic.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

From Color Diagnostics, LLC DBA Color Health, SCV001357318.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (8)

Description

This missense variant replaces phenylalanine with serine at codon 1761 of the BRCA1 protein. Computational prediction suggests that this variant may have deleterious impact on protein structure and function (internally defined REVEL score threshold >= 0.7, PMID: 27666373). This variant has been reported to impact BRCA1 function in a homology-directed repair assay, haploid human cell proliferation assay and yeast transcription activation assays (PMID: 10811118, 20516115, 29884841, 30209399). This variant has been reported in three individuals affected with breast cancer and/or ovarian (PMID: 19016756, 34072659; Color internal data) and a multifactorial analysis has reported co-occurrence and family history likelihood ratios for pathogenicity of 1.067 and 6.917, respectively (PMID: 31131967). This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). Based on the available evidence, this variant is classified as Likely Pathogenic.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jun 2, 2024