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NM_007294.4(BRCA1):c.5071A>G (p.Thr1691Ala) AND Hereditary cancer-predisposing syndrome

Germline classification:
Conflicting interpretations of pathogenicity (2 submissions)
Last evaluated:
Nov 3, 2022
Review status:
criteria provided, conflicting classifications
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:
RCV000573049.11

Allele description [Variation Report for NM_007294.4(BRCA1):c.5071A>G (p.Thr1691Ala)]

NM_007294.4(BRCA1):c.5071A>G (p.Thr1691Ala)

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.5071A>G (p.Thr1691Ala)
HGVS:
  • NC_000017.11:g.43067611T>C
  • NG_005905.2:g.150373A>G
  • NM_001407571.1:c.4858A>G
  • NM_001407581.1:c.5137A>G
  • NM_001407582.1:c.5137A>G
  • NM_001407583.1:c.5134A>G
  • NM_001407585.1:c.5134A>G
  • NM_001407587.1:c.5134A>G
  • NM_001407590.1:c.5131A>G
  • NM_001407591.1:c.5131A>G
  • NM_001407593.1:c.5071A>G
  • NM_001407594.1:c.5071A>G
  • NM_001407596.1:c.5071A>G
  • NM_001407597.1:c.5071A>G
  • NM_001407598.1:c.5071A>G
  • NM_001407602.1:c.5071A>G
  • NM_001407603.1:c.5071A>G
  • NM_001407605.1:c.5071A>G
  • NM_001407610.1:c.5068A>G
  • NM_001407611.1:c.5068A>G
  • NM_001407612.1:c.5068A>G
  • NM_001407613.1:c.5068A>G
  • NM_001407614.1:c.5068A>G
  • NM_001407615.1:c.5068A>G
  • NM_001407616.1:c.5068A>G
  • NM_001407617.1:c.5068A>G
  • NM_001407618.1:c.5068A>G
  • NM_001407619.1:c.5068A>G
  • NM_001407620.1:c.5068A>G
  • NM_001407621.1:c.5068A>G
  • NM_001407622.1:c.5068A>G
  • NM_001407623.1:c.5068A>G
  • NM_001407624.1:c.5068A>G
  • NM_001407625.1:c.5068A>G
  • NM_001407626.1:c.5068A>G
  • NM_001407627.1:c.5065A>G
  • NM_001407628.1:c.5065A>G
  • NM_001407629.1:c.5065A>G
  • NM_001407630.1:c.5065A>G
  • NM_001407631.1:c.5065A>G
  • NM_001407632.1:c.5065A>G
  • NM_001407633.1:c.5065A>G
  • NM_001407634.1:c.5065A>G
  • NM_001407635.1:c.5065A>G
  • NM_001407636.1:c.5065A>G
  • NM_001407637.1:c.5065A>G
  • NM_001407638.1:c.5065A>G
  • NM_001407639.1:c.5065A>G
  • NM_001407640.1:c.5065A>G
  • NM_001407641.1:c.5065A>G
  • NM_001407642.1:c.5065A>G
  • NM_001407644.1:c.5062A>G
  • NM_001407645.1:c.5062A>G
  • NM_001407646.1:c.5059A>G
  • NM_001407647.1:c.5056A>G
  • NM_001407648.1:c.5014A>G
  • NM_001407649.1:c.5011A>G
  • NM_001407652.1:c.5071A>G
  • NM_001407653.1:c.4993A>G
  • NM_001407654.1:c.4993A>G
  • NM_001407655.1:c.4993A>G
  • NM_001407656.1:c.4990A>G
  • NM_001407657.1:c.4990A>G
  • NM_001407658.1:c.4990A>G
  • NM_001407659.1:c.4987A>G
  • NM_001407660.1:c.4987A>G
  • NM_001407661.1:c.4987A>G
  • NM_001407662.1:c.4987A>G
  • NM_001407663.1:c.4987A>G
  • NM_001407664.1:c.4948A>G
  • NM_001407665.1:c.4948A>G
  • NM_001407666.1:c.4948A>G
  • NM_001407667.1:c.4948A>G
  • NM_001407668.1:c.4948A>G
  • NM_001407669.1:c.4948A>G
  • NM_001407670.1:c.4945A>G
  • NM_001407671.1:c.4945A>G
  • NM_001407672.1:c.4945A>G
  • NM_001407673.1:c.4945A>G
  • NM_001407674.1:c.4945A>G
  • NM_001407675.1:c.4945A>G
  • NM_001407676.1:c.4945A>G
  • NM_001407677.1:c.4945A>G
  • NM_001407678.1:c.4945A>G
  • NM_001407679.1:c.4945A>G
  • NM_001407680.1:c.4945A>G
  • NM_001407681.1:c.4942A>G
  • NM_001407682.1:c.4942A>G
  • NM_001407683.1:c.4942A>G
  • NM_001407684.1:c.5071A>G
  • NM_001407685.1:c.4942A>G
  • NM_001407686.1:c.4942A>G
  • NM_001407687.1:c.4942A>G
  • NM_001407688.1:c.4942A>G
  • NM_001407689.1:c.4942A>G
  • NM_001407690.1:c.4939A>G
  • NM_001407691.1:c.4939A>G
  • NM_001407692.1:c.4930A>G
  • NM_001407694.1:c.4930A>G
  • NM_001407695.1:c.4930A>G
  • NM_001407696.1:c.4930A>G
  • NM_001407697.1:c.4930A>G
  • NM_001407698.1:c.4930A>G
  • NM_001407724.1:c.4930A>G
  • NM_001407725.1:c.4930A>G
  • NM_001407726.1:c.4930A>G
  • NM_001407727.1:c.4930A>G
  • NM_001407728.1:c.4930A>G
  • NM_001407729.1:c.4930A>G
  • NM_001407730.1:c.4930A>G
  • NM_001407731.1:c.4930A>G
  • NM_001407732.1:c.4927A>G
  • NM_001407733.1:c.4927A>G
  • NM_001407734.1:c.4927A>G
  • NM_001407735.1:c.4927A>G
  • NM_001407736.1:c.4927A>G
  • NM_001407737.1:c.4927A>G
  • NM_001407738.1:c.4927A>G
  • NM_001407739.1:c.4927A>G
  • NM_001407740.1:c.4927A>G
  • NM_001407741.1:c.4927A>G
  • NM_001407742.1:c.4927A>G
  • NM_001407743.1:c.4927A>G
  • NM_001407744.1:c.4927A>G
  • NM_001407745.1:c.4927A>G
  • NM_001407746.1:c.4927A>G
  • NM_001407747.1:c.4927A>G
  • NM_001407748.1:c.4927A>G
  • NM_001407749.1:c.4927A>G
  • NM_001407750.1:c.4927A>G
  • NM_001407751.1:c.4927A>G
  • NM_001407752.1:c.4927A>G
  • NM_001407838.1:c.4924A>G
  • NM_001407839.1:c.4924A>G
  • NM_001407841.1:c.4924A>G
  • NM_001407842.1:c.4924A>G
  • NM_001407843.1:c.4924A>G
  • NM_001407844.1:c.4924A>G
  • NM_001407845.1:c.4924A>G
  • NM_001407846.1:c.4924A>G
  • NM_001407847.1:c.4924A>G
  • NM_001407848.1:c.4924A>G
  • NM_001407849.1:c.4924A>G
  • NM_001407850.1:c.4924A>G
  • NM_001407851.1:c.4924A>G
  • NM_001407852.1:c.4924A>G
  • NM_001407853.1:c.4924A>G
  • NM_001407854.1:c.5071A>G
  • NM_001407858.1:c.5068A>G
  • NM_001407859.1:c.5068A>G
  • NM_001407860.1:c.5068A>G
  • NM_001407861.1:c.5065A>G
  • NM_001407862.1:c.4870A>G
  • NM_001407863.1:c.4945A>G
  • NM_001407874.1:c.4864A>G
  • NM_001407875.1:c.4864A>G
  • NM_001407879.1:c.4861A>G
  • NM_001407881.1:c.4861A>G
  • NM_001407882.1:c.4861A>G
  • NM_001407884.1:c.4861A>G
  • NM_001407885.1:c.4861A>G
  • NM_001407886.1:c.4861A>G
  • NM_001407887.1:c.4861A>G
  • NM_001407889.1:c.4861A>G
  • NM_001407894.1:c.4858A>G
  • NM_001407895.1:c.4858A>G
  • NM_001407896.1:c.4858A>G
  • NM_001407897.1:c.4858A>G
  • NM_001407898.1:c.4858A>G
  • NM_001407899.1:c.4858A>G
  • NM_001407900.1:c.4858A>G
  • NM_001407902.1:c.4858A>G
  • NM_001407904.1:c.4858A>G
  • NM_001407906.1:c.4858A>G
  • NM_001407907.1:c.4858A>G
  • NM_001407908.1:c.4858A>G
  • NM_001407909.1:c.4858A>G
  • NM_001407910.1:c.4858A>G
  • NM_001407915.1:c.4855A>G
  • NM_001407916.1:c.4855A>G
  • NM_001407917.1:c.4855A>G
  • NM_001407918.1:c.4855A>G
  • NM_001407919.1:c.4948A>G
  • NM_001407920.1:c.4807A>G
  • NM_001407921.1:c.4807A>G
  • NM_001407922.1:c.4807A>G
  • NM_001407923.1:c.4807A>G
  • NM_001407924.1:c.4807A>G
  • NM_001407925.1:c.4807A>G
  • NM_001407926.1:c.4807A>G
  • NM_001407927.1:c.4804A>G
  • NM_001407928.1:c.4804A>G
  • NM_001407929.1:c.4804A>G
  • NM_001407930.1:c.4804A>G
  • NM_001407931.1:c.4804A>G
  • NM_001407932.1:c.4804A>G
  • NM_001407933.1:c.4804A>G
  • NM_001407934.1:c.4801A>G
  • NM_001407935.1:c.4801A>G
  • NM_001407936.1:c.4801A>G
  • NM_001407937.1:c.4948A>G
  • NM_001407938.1:c.4948A>G
  • NM_001407939.1:c.4945A>G
  • NM_001407940.1:c.4945A>G
  • NM_001407941.1:c.4942A>G
  • NM_001407942.1:c.4930A>G
  • NM_001407943.1:c.4927A>G
  • NM_001407944.1:c.4927A>G
  • NM_001407945.1:c.4927A>G
  • NM_001407946.1:c.4738A>G
  • NM_001407947.1:c.4738A>G
  • NM_001407948.1:c.4738A>G
  • NM_001407949.1:c.4738A>G
  • NM_001407950.1:c.4735A>G
  • NM_001407951.1:c.4735A>G
  • NM_001407952.1:c.4735A>G
  • NM_001407953.1:c.4735A>G
  • NM_001407954.1:c.4735A>G
  • NM_001407955.1:c.4735A>G
  • NM_001407956.1:c.4732A>G
  • NM_001407957.1:c.4732A>G
  • NM_001407958.1:c.4732A>G
  • NM_001407959.1:c.4690A>G
  • NM_001407960.1:c.4687A>G
  • NM_001407962.1:c.4687A>G
  • NM_001407963.1:c.4684A>G
  • NM_001407964.1:c.4609A>G
  • NM_001407965.1:c.4564A>G
  • NM_001407966.1:c.4183A>G
  • NM_001407967.1:c.4180A>G
  • NM_001407968.1:c.2467A>G
  • NM_001407969.1:c.2464A>G
  • NM_001407970.1:c.1828A>G
  • NM_001407971.1:c.1828A>G
  • NM_001407972.1:c.1825A>G
  • NM_001407973.1:c.1762A>G
  • NM_001407974.1:c.1762A>G
  • NM_001407975.1:c.1762A>G
  • NM_001407976.1:c.1762A>G
  • NM_001407977.1:c.1762A>G
  • NM_001407978.1:c.1762A>G
  • NM_001407979.1:c.1759A>G
  • NM_001407980.1:c.1759A>G
  • NM_001407981.1:c.1759A>G
  • NM_001407982.1:c.1759A>G
  • NM_001407983.1:c.1759A>G
  • NM_001407984.1:c.1759A>G
  • NM_001407985.1:c.1759A>G
  • NM_001407986.1:c.1759A>G
  • NM_001407990.1:c.1759A>G
  • NM_001407991.1:c.1759A>G
  • NM_001407992.1:c.1759A>G
  • NM_001407993.1:c.1759A>G
  • NM_001408392.1:c.1756A>G
  • NM_001408396.1:c.1756A>G
  • NM_001408397.1:c.1756A>G
  • NM_001408398.1:c.1756A>G
  • NM_001408399.1:c.1756A>G
  • NM_001408400.1:c.1756A>G
  • NM_001408401.1:c.1756A>G
  • NM_001408402.1:c.1756A>G
  • NM_001408403.1:c.1756A>G
  • NM_001408404.1:c.1756A>G
  • NM_001408406.1:c.1753A>G
  • NM_001408407.1:c.1753A>G
  • NM_001408408.1:c.1753A>G
  • NM_001408409.1:c.1750A>G
  • NM_001408410.1:c.1687A>G
  • NM_001408411.1:c.1684A>G
  • NM_001408412.1:c.1681A>G
  • NM_001408413.1:c.1681A>G
  • NM_001408414.1:c.1681A>G
  • NM_001408415.1:c.1681A>G
  • NM_001408416.1:c.1681A>G
  • NM_001408418.1:c.1645A>G
  • NM_001408419.1:c.1645A>G
  • NM_001408420.1:c.1645A>G
  • NM_001408421.1:c.1642A>G
  • NM_001408422.1:c.1642A>G
  • NM_001408423.1:c.1642A>G
  • NM_001408424.1:c.1642A>G
  • NM_001408425.1:c.1639A>G
  • NM_001408426.1:c.1639A>G
  • NM_001408427.1:c.1639A>G
  • NM_001408428.1:c.1639A>G
  • NM_001408429.1:c.1639A>G
  • NM_001408430.1:c.1639A>G
  • NM_001408431.1:c.1639A>G
  • NM_001408432.1:c.1636A>G
  • NM_001408433.1:c.1636A>G
  • NM_001408434.1:c.1636A>G
  • NM_001408435.1:c.1636A>G
  • NM_001408436.1:c.1636A>G
  • NM_001408437.1:c.1636A>G
  • NM_001408438.1:c.1636A>G
  • NM_001408439.1:c.1636A>G
  • NM_001408440.1:c.1636A>G
  • NM_001408441.1:c.1636A>G
  • NM_001408442.1:c.1636A>G
  • NM_001408443.1:c.1636A>G
  • NM_001408444.1:c.1636A>G
  • NM_001408445.1:c.1633A>G
  • NM_001408446.1:c.1633A>G
  • NM_001408447.1:c.1633A>G
  • NM_001408448.1:c.1633A>G
  • NM_001408450.1:c.1633A>G
  • NM_001408451.1:c.1627A>G
  • NM_001408452.1:c.1621A>G
  • NM_001408453.1:c.1621A>G
  • NM_001408454.1:c.1621A>G
  • NM_001408455.1:c.1621A>G
  • NM_001408456.1:c.1621A>G
  • NM_001408457.1:c.1621A>G
  • NM_001408458.1:c.1618A>G
  • NM_001408459.1:c.1618A>G
  • NM_001408460.1:c.1618A>G
  • NM_001408461.1:c.1618A>G
  • NM_001408462.1:c.1618A>G
  • NM_001408463.1:c.1618A>G
  • NM_001408464.1:c.1618A>G
  • NM_001408465.1:c.1618A>G
  • NM_001408466.1:c.1618A>G
  • NM_001408467.1:c.1618A>G
  • NM_001408468.1:c.1615A>G
  • NM_001408469.1:c.1615A>G
  • NM_001408470.1:c.1615A>G
  • NM_001408472.1:c.1759A>G
  • NM_001408473.1:c.1756A>G
  • NM_001408474.1:c.1561A>G
  • NM_001408475.1:c.1558A>G
  • NM_001408476.1:c.1558A>G
  • NM_001408478.1:c.1552A>G
  • NM_001408479.1:c.1552A>G
  • NM_001408480.1:c.1552A>G
  • NM_001408481.1:c.1549A>G
  • NM_001408482.1:c.1549A>G
  • NM_001408483.1:c.1549A>G
  • NM_001408484.1:c.1549A>G
  • NM_001408485.1:c.1549A>G
  • NM_001408489.1:c.1549A>G
  • NM_001408490.1:c.1549A>G
  • NM_001408491.1:c.1549A>G
  • NM_001408492.1:c.1546A>G
  • NM_001408493.1:c.1546A>G
  • NM_001408494.1:c.1522A>G
  • NM_001408495.1:c.1516A>G
  • NM_001408496.1:c.1498A>G
  • NM_001408497.1:c.1498A>G
  • NM_001408498.1:c.1498A>G
  • NM_001408499.1:c.1498A>G
  • NM_001408500.1:c.1498A>G
  • NM_001408501.1:c.1498A>G
  • NM_001408502.1:c.1495A>G
  • NM_001408503.1:c.1495A>G
  • NM_001408504.1:c.1495A>G
  • NM_001408505.1:c.1492A>G
  • NM_001408506.1:c.1435A>G
  • NM_001408507.1:c.1432A>G
  • NM_001408508.1:c.1423A>G
  • NM_001408509.1:c.1420A>G
  • NM_001408510.1:c.1381A>G
  • NM_001408511.1:c.1378A>G
  • NM_001408512.1:c.1258A>G
  • NM_001408513.1:c.1231A>G
  • NM_007294.4:c.5071A>GMANE SELECT
  • NM_007297.4:c.4930A>G
  • NM_007298.4:c.1759A>G
  • NM_007299.4:c.1759A>G
  • NM_007300.4:c.5134A>G
  • NM_007304.2:c.1759A>G
  • NP_001394500.1:p.Thr1620Ala
  • NP_001394510.1:p.Thr1713Ala
  • NP_001394511.1:p.Thr1713Ala
  • NP_001394512.1:p.Thr1712Ala
  • NP_001394514.1:p.Thr1712Ala
  • NP_001394516.1:p.Thr1712Ala
  • NP_001394519.1:p.Thr1711Ala
  • NP_001394520.1:p.Thr1711Ala
  • NP_001394522.1:p.Thr1691Ala
  • NP_001394523.1:p.Thr1691Ala
  • NP_001394525.1:p.Thr1691Ala
  • NP_001394526.1:p.Thr1691Ala
  • NP_001394527.1:p.Thr1691Ala
  • NP_001394531.1:p.Thr1691Ala
  • NP_001394532.1:p.Thr1691Ala
  • NP_001394534.1:p.Thr1691Ala
  • NP_001394539.1:p.Thr1690Ala
  • NP_001394540.1:p.Thr1690Ala
  • NP_001394541.1:p.Thr1690Ala
  • NP_001394542.1:p.Thr1690Ala
  • NP_001394543.1:p.Thr1690Ala
  • NP_001394544.1:p.Thr1690Ala
  • NP_001394545.1:p.Thr1690Ala
  • NP_001394546.1:p.Thr1690Ala
  • NP_001394547.1:p.Thr1690Ala
  • NP_001394548.1:p.Thr1690Ala
  • NP_001394549.1:p.Thr1690Ala
  • NP_001394550.1:p.Thr1690Ala
  • NP_001394551.1:p.Thr1690Ala
  • NP_001394552.1:p.Thr1690Ala
  • NP_001394553.1:p.Thr1690Ala
  • NP_001394554.1:p.Thr1690Ala
  • NP_001394555.1:p.Thr1690Ala
  • NP_001394556.1:p.Thr1689Ala
  • NP_001394557.1:p.Thr1689Ala
  • NP_001394558.1:p.Thr1689Ala
  • NP_001394559.1:p.Thr1689Ala
  • NP_001394560.1:p.Thr1689Ala
  • NP_001394561.1:p.Thr1689Ala
  • NP_001394562.1:p.Thr1689Ala
  • NP_001394563.1:p.Thr1689Ala
  • NP_001394564.1:p.Thr1689Ala
  • NP_001394565.1:p.Thr1689Ala
  • NP_001394566.1:p.Thr1689Ala
  • NP_001394567.1:p.Thr1689Ala
  • NP_001394568.1:p.Thr1689Ala
  • NP_001394569.1:p.Thr1689Ala
  • NP_001394570.1:p.Thr1689Ala
  • NP_001394571.1:p.Thr1689Ala
  • NP_001394573.1:p.Thr1688Ala
  • NP_001394574.1:p.Thr1688Ala
  • NP_001394575.1:p.Thr1687Ala
  • NP_001394576.1:p.Thr1686Ala
  • NP_001394577.1:p.Thr1672Ala
  • NP_001394578.1:p.Thr1671Ala
  • NP_001394581.1:p.Thr1691Ala
  • NP_001394582.1:p.Thr1665Ala
  • NP_001394583.1:p.Thr1665Ala
  • NP_001394584.1:p.Thr1665Ala
  • NP_001394585.1:p.Thr1664Ala
  • NP_001394586.1:p.Thr1664Ala
  • NP_001394587.1:p.Thr1664Ala
  • NP_001394588.1:p.Thr1663Ala
  • NP_001394589.1:p.Thr1663Ala
  • NP_001394590.1:p.Thr1663Ala
  • NP_001394591.1:p.Thr1663Ala
  • NP_001394592.1:p.Thr1663Ala
  • NP_001394593.1:p.Thr1650Ala
  • NP_001394594.1:p.Thr1650Ala
  • NP_001394595.1:p.Thr1650Ala
  • NP_001394596.1:p.Thr1650Ala
  • NP_001394597.1:p.Thr1650Ala
  • NP_001394598.1:p.Thr1650Ala
  • NP_001394599.1:p.Thr1649Ala
  • NP_001394600.1:p.Thr1649Ala
  • NP_001394601.1:p.Thr1649Ala
  • NP_001394602.1:p.Thr1649Ala
  • NP_001394603.1:p.Thr1649Ala
  • NP_001394604.1:p.Thr1649Ala
  • NP_001394605.1:p.Thr1649Ala
  • NP_001394606.1:p.Thr1649Ala
  • NP_001394607.1:p.Thr1649Ala
  • NP_001394608.1:p.Thr1649Ala
  • NP_001394609.1:p.Thr1649Ala
  • NP_001394610.1:p.Thr1648Ala
  • NP_001394611.1:p.Thr1648Ala
  • NP_001394612.1:p.Thr1648Ala
  • NP_001394613.1:p.Thr1691Ala
  • NP_001394614.1:p.Thr1648Ala
  • NP_001394615.1:p.Thr1648Ala
  • NP_001394616.1:p.Thr1648Ala
  • NP_001394617.1:p.Thr1648Ala
  • NP_001394618.1:p.Thr1648Ala
  • NP_001394619.1:p.Thr1647Ala
  • NP_001394620.1:p.Thr1647Ala
  • NP_001394621.1:p.Thr1644Ala
  • NP_001394623.1:p.Thr1644Ala
  • NP_001394624.1:p.Thr1644Ala
  • NP_001394625.1:p.Thr1644Ala
  • NP_001394626.1:p.Thr1644Ala
  • NP_001394627.1:p.Thr1644Ala
  • NP_001394653.1:p.Thr1644Ala
  • NP_001394654.1:p.Thr1644Ala
  • NP_001394655.1:p.Thr1644Ala
  • NP_001394656.1:p.Thr1644Ala
  • NP_001394657.1:p.Thr1644Ala
  • NP_001394658.1:p.Thr1644Ala
  • NP_001394659.1:p.Thr1644Ala
  • NP_001394660.1:p.Thr1644Ala
  • NP_001394661.1:p.Thr1643Ala
  • NP_001394662.1:p.Thr1643Ala
  • NP_001394663.1:p.Thr1643Ala
  • NP_001394664.1:p.Thr1643Ala
  • NP_001394665.1:p.Thr1643Ala
  • NP_001394666.1:p.Thr1643Ala
  • NP_001394667.1:p.Thr1643Ala
  • NP_001394668.1:p.Thr1643Ala
  • NP_001394669.1:p.Thr1643Ala
  • NP_001394670.1:p.Thr1643Ala
  • NP_001394671.1:p.Thr1643Ala
  • NP_001394672.1:p.Thr1643Ala
  • NP_001394673.1:p.Thr1643Ala
  • NP_001394674.1:p.Thr1643Ala
  • NP_001394675.1:p.Thr1643Ala
  • NP_001394676.1:p.Thr1643Ala
  • NP_001394677.1:p.Thr1643Ala
  • NP_001394678.1:p.Thr1643Ala
  • NP_001394679.1:p.Thr1643Ala
  • NP_001394680.1:p.Thr1643Ala
  • NP_001394681.1:p.Thr1643Ala
  • NP_001394767.1:p.Thr1642Ala
  • NP_001394768.1:p.Thr1642Ala
  • NP_001394770.1:p.Thr1642Ala
  • NP_001394771.1:p.Thr1642Ala
  • NP_001394772.1:p.Thr1642Ala
  • NP_001394773.1:p.Thr1642Ala
  • NP_001394774.1:p.Thr1642Ala
  • NP_001394775.1:p.Thr1642Ala
  • NP_001394776.1:p.Thr1642Ala
  • NP_001394777.1:p.Thr1642Ala
  • NP_001394778.1:p.Thr1642Ala
  • NP_001394779.1:p.Thr1642Ala
  • NP_001394780.1:p.Thr1642Ala
  • NP_001394781.1:p.Thr1642Ala
  • NP_001394782.1:p.Thr1642Ala
  • NP_001394783.1:p.Thr1691Ala
  • NP_001394787.1:p.Thr1690Ala
  • NP_001394788.1:p.Thr1690Ala
  • NP_001394789.1:p.Thr1690Ala
  • NP_001394790.1:p.Thr1689Ala
  • NP_001394791.1:p.Thr1624Ala
  • NP_001394792.1:p.Thr1649Ala
  • NP_001394803.1:p.Thr1622Ala
  • NP_001394804.1:p.Thr1622Ala
  • NP_001394808.1:p.Thr1621Ala
  • NP_001394810.1:p.Thr1621Ala
  • NP_001394811.1:p.Thr1621Ala
  • NP_001394813.1:p.Thr1621Ala
  • NP_001394814.1:p.Thr1621Ala
  • NP_001394815.1:p.Thr1621Ala
  • NP_001394816.1:p.Thr1621Ala
  • NP_001394818.1:p.Thr1621Ala
  • NP_001394823.1:p.Thr1620Ala
  • NP_001394824.1:p.Thr1620Ala
  • NP_001394825.1:p.Thr1620Ala
  • NP_001394826.1:p.Thr1620Ala
  • NP_001394827.1:p.Thr1620Ala
  • NP_001394828.1:p.Thr1620Ala
  • NP_001394829.1:p.Thr1620Ala
  • NP_001394831.1:p.Thr1620Ala
  • NP_001394833.1:p.Thr1620Ala
  • NP_001394835.1:p.Thr1620Ala
  • NP_001394836.1:p.Thr1620Ala
  • NP_001394837.1:p.Thr1620Ala
  • NP_001394838.1:p.Thr1620Ala
  • NP_001394839.1:p.Thr1620Ala
  • NP_001394844.1:p.Thr1619Ala
  • NP_001394845.1:p.Thr1619Ala
  • NP_001394846.1:p.Thr1619Ala
  • NP_001394847.1:p.Thr1619Ala
  • NP_001394848.1:p.Thr1650Ala
  • NP_001394849.1:p.Thr1603Ala
  • NP_001394850.1:p.Thr1603Ala
  • NP_001394851.1:p.Thr1603Ala
  • NP_001394852.1:p.Thr1603Ala
  • NP_001394853.1:p.Thr1603Ala
  • NP_001394854.1:p.Thr1603Ala
  • NP_001394855.1:p.Thr1603Ala
  • NP_001394856.1:p.Thr1602Ala
  • NP_001394857.1:p.Thr1602Ala
  • NP_001394858.1:p.Thr1602Ala
  • NP_001394859.1:p.Thr1602Ala
  • NP_001394860.1:p.Thr1602Ala
  • NP_001394861.1:p.Thr1602Ala
  • NP_001394862.1:p.Thr1602Ala
  • NP_001394863.1:p.Thr1601Ala
  • NP_001394864.1:p.Thr1601Ala
  • NP_001394865.1:p.Thr1601Ala
  • NP_001394866.1:p.Thr1650Ala
  • NP_001394867.1:p.Thr1650Ala
  • NP_001394868.1:p.Thr1649Ala
  • NP_001394869.1:p.Thr1649Ala
  • NP_001394870.1:p.Thr1648Ala
  • NP_001394871.1:p.Thr1644Ala
  • NP_001394872.1:p.Thr1643Ala
  • NP_001394873.1:p.Thr1643Ala
  • NP_001394874.1:p.Thr1643Ala
  • NP_001394875.1:p.Thr1580Ala
  • NP_001394876.1:p.Thr1580Ala
  • NP_001394877.1:p.Thr1580Ala
  • NP_001394878.1:p.Thr1580Ala
  • NP_001394879.1:p.Thr1579Ala
  • NP_001394880.1:p.Thr1579Ala
  • NP_001394881.1:p.Thr1579Ala
  • NP_001394882.1:p.Thr1579Ala
  • NP_001394883.1:p.Thr1579Ala
  • NP_001394884.1:p.Thr1579Ala
  • NP_001394885.1:p.Thr1578Ala
  • NP_001394886.1:p.Thr1578Ala
  • NP_001394887.1:p.Thr1578Ala
  • NP_001394888.1:p.Thr1564Ala
  • NP_001394889.1:p.Thr1563Ala
  • NP_001394891.1:p.Thr1563Ala
  • NP_001394892.1:p.Thr1562Ala
  • NP_001394893.1:p.Thr1537Ala
  • NP_001394894.1:p.Thr1522Ala
  • NP_001394895.1:p.Thr1395Ala
  • NP_001394896.1:p.Thr1394Ala
  • NP_001394897.1:p.Thr823Ala
  • NP_001394898.1:p.Thr822Ala
  • NP_001394899.1:p.Thr610Ala
  • NP_001394900.1:p.Thr610Ala
  • NP_001394901.1:p.Thr609Ala
  • NP_001394902.1:p.Thr588Ala
  • NP_001394903.1:p.Thr588Ala
  • NP_001394904.1:p.Thr588Ala
  • NP_001394905.1:p.Thr588Ala
  • NP_001394906.1:p.Thr588Ala
  • NP_001394907.1:p.Thr588Ala
  • NP_001394908.1:p.Thr587Ala
  • NP_001394909.1:p.Thr587Ala
  • NP_001394910.1:p.Thr587Ala
  • NP_001394911.1:p.Thr587Ala
  • NP_001394912.1:p.Thr587Ala
  • NP_001394913.1:p.Thr587Ala
  • NP_001394914.1:p.Thr587Ala
  • NP_001394915.1:p.Thr587Ala
  • NP_001394919.1:p.Thr587Ala
  • NP_001394920.1:p.Thr587Ala
  • NP_001394921.1:p.Thr587Ala
  • NP_001394922.1:p.Thr587Ala
  • NP_001395321.1:p.Thr586Ala
  • NP_001395325.1:p.Thr586Ala
  • NP_001395326.1:p.Thr586Ala
  • NP_001395327.1:p.Thr586Ala
  • NP_001395328.1:p.Thr586Ala
  • NP_001395329.1:p.Thr586Ala
  • NP_001395330.1:p.Thr586Ala
  • NP_001395331.1:p.Thr586Ala
  • NP_001395332.1:p.Thr586Ala
  • NP_001395333.1:p.Thr586Ala
  • NP_001395335.1:p.Thr585Ala
  • NP_001395336.1:p.Thr585Ala
  • NP_001395337.1:p.Thr585Ala
  • NP_001395338.1:p.Thr584Ala
  • NP_001395339.1:p.Thr563Ala
  • NP_001395340.1:p.Thr562Ala
  • NP_001395341.1:p.Thr561Ala
  • NP_001395342.1:p.Thr561Ala
  • NP_001395343.1:p.Thr561Ala
  • NP_001395344.1:p.Thr561Ala
  • NP_001395345.1:p.Thr561Ala
  • NP_001395347.1:p.Thr549Ala
  • NP_001395348.1:p.Thr549Ala
  • NP_001395349.1:p.Thr549Ala
  • NP_001395350.1:p.Thr548Ala
  • NP_001395351.1:p.Thr548Ala
  • NP_001395352.1:p.Thr548Ala
  • NP_001395353.1:p.Thr548Ala
  • NP_001395354.1:p.Thr547Ala
  • NP_001395355.1:p.Thr547Ala
  • NP_001395356.1:p.Thr547Ala
  • NP_001395357.1:p.Thr547Ala
  • NP_001395358.1:p.Thr547Ala
  • NP_001395359.1:p.Thr547Ala
  • NP_001395360.1:p.Thr547Ala
  • NP_001395361.1:p.Thr546Ala
  • NP_001395362.1:p.Thr546Ala
  • NP_001395363.1:p.Thr546Ala
  • NP_001395364.1:p.Thr546Ala
  • NP_001395365.1:p.Thr546Ala
  • NP_001395366.1:p.Thr546Ala
  • NP_001395367.1:p.Thr546Ala
  • NP_001395368.1:p.Thr546Ala
  • NP_001395369.1:p.Thr546Ala
  • NP_001395370.1:p.Thr546Ala
  • NP_001395371.1:p.Thr546Ala
  • NP_001395372.1:p.Thr546Ala
  • NP_001395373.1:p.Thr546Ala
  • NP_001395374.1:p.Thr545Ala
  • NP_001395375.1:p.Thr545Ala
  • NP_001395376.1:p.Thr545Ala
  • NP_001395377.1:p.Thr545Ala
  • NP_001395379.1:p.Thr545Ala
  • NP_001395380.1:p.Thr543Ala
  • NP_001395381.1:p.Thr541Ala
  • NP_001395382.1:p.Thr541Ala
  • NP_001395383.1:p.Thr541Ala
  • NP_001395384.1:p.Thr541Ala
  • NP_001395385.1:p.Thr541Ala
  • NP_001395386.1:p.Thr541Ala
  • NP_001395387.1:p.Thr540Ala
  • NP_001395388.1:p.Thr540Ala
  • NP_001395389.1:p.Thr540Ala
  • NP_001395390.1:p.Thr540Ala
  • NP_001395391.1:p.Thr540Ala
  • NP_001395392.1:p.Thr540Ala
  • NP_001395393.1:p.Thr540Ala
  • NP_001395394.1:p.Thr540Ala
  • NP_001395395.1:p.Thr540Ala
  • NP_001395396.1:p.Thr540Ala
  • NP_001395397.1:p.Thr539Ala
  • NP_001395398.1:p.Thr539Ala
  • NP_001395399.1:p.Thr539Ala
  • NP_001395401.1:p.Thr587Ala
  • NP_001395402.1:p.Thr586Ala
  • NP_001395403.1:p.Thr521Ala
  • NP_001395404.1:p.Thr520Ala
  • NP_001395405.1:p.Thr520Ala
  • NP_001395407.1:p.Thr518Ala
  • NP_001395408.1:p.Thr518Ala
  • NP_001395409.1:p.Thr518Ala
  • NP_001395410.1:p.Thr517Ala
  • NP_001395411.1:p.Thr517Ala
  • NP_001395412.1:p.Thr517Ala
  • NP_001395413.1:p.Thr517Ala
  • NP_001395414.1:p.Thr517Ala
  • NP_001395418.1:p.Thr517Ala
  • NP_001395419.1:p.Thr517Ala
  • NP_001395420.1:p.Thr517Ala
  • NP_001395421.1:p.Thr516Ala
  • NP_001395422.1:p.Thr516Ala
  • NP_001395423.1:p.Thr508Ala
  • NP_001395424.1:p.Thr506Ala
  • NP_001395425.1:p.Thr500Ala
  • NP_001395426.1:p.Thr500Ala
  • NP_001395427.1:p.Thr500Ala
  • NP_001395428.1:p.Thr500Ala
  • NP_001395429.1:p.Thr500Ala
  • NP_001395430.1:p.Thr500Ala
  • NP_001395431.1:p.Thr499Ala
  • NP_001395432.1:p.Thr499Ala
  • NP_001395433.1:p.Thr499Ala
  • NP_001395434.1:p.Thr498Ala
  • NP_001395435.1:p.Thr479Ala
  • NP_001395436.1:p.Thr478Ala
  • NP_001395437.1:p.Thr475Ala
  • NP_001395438.1:p.Thr474Ala
  • NP_001395439.1:p.Thr461Ala
  • NP_001395440.1:p.Thr460Ala
  • NP_001395441.1:p.Thr420Ala
  • NP_001395442.1:p.Thr411Ala
  • NP_009225.1:p.Thr1691Ala
  • NP_009225.1:p.Thr1691Ala
  • NP_009228.2:p.Thr1644Ala
  • NP_009229.2:p.Thr587Ala
  • NP_009229.2:p.Thr587Ala
  • NP_009230.2:p.Thr587Ala
  • NP_009231.2:p.Thr1712Ala
  • NP_009235.2:p.Thr587Ala
  • LRG_292t1:c.5071A>G
  • LRG_292:g.150373A>G
  • LRG_292p1:p.Thr1691Ala
  • NC_000017.10:g.41219628T>C
  • NM_007294.3:c.5071A>G
  • NM_007298.3:c.1759A>G
  • NR_027676.2:n.5248A>G
Protein change:
T1394A
Links:
dbSNP: rs397509219
NCBI 1000 Genomes Browser:
rs397509219
Molecular consequence:
  • NM_001407571.1:c.4858A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407581.1:c.5137A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407582.1:c.5137A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407583.1:c.5134A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407585.1:c.5134A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407587.1:c.5134A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407590.1:c.5131A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407591.1:c.5131A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407593.1:c.5071A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407594.1:c.5071A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407596.1:c.5071A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407597.1:c.5071A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407598.1:c.5071A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407602.1:c.5071A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407603.1:c.5071A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407605.1:c.5071A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407610.1:c.5068A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407611.1:c.5068A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407612.1:c.5068A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407613.1:c.5068A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407614.1:c.5068A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407615.1:c.5068A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407616.1:c.5068A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407617.1:c.5068A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407618.1:c.5068A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407619.1:c.5068A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407620.1:c.5068A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407621.1:c.5068A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407622.1:c.5068A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407623.1:c.5068A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407624.1:c.5068A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407625.1:c.5068A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407626.1:c.5068A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407627.1:c.5065A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407628.1:c.5065A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407629.1:c.5065A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407630.1:c.5065A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407631.1:c.5065A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407632.1:c.5065A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407633.1:c.5065A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407634.1:c.5065A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407635.1:c.5065A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407636.1:c.5065A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407637.1:c.5065A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407638.1:c.5065A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407639.1:c.5065A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407640.1:c.5065A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407641.1:c.5065A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407642.1:c.5065A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407644.1:c.5062A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407645.1:c.5062A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407646.1:c.5059A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407647.1:c.5056A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407648.1:c.5014A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407649.1:c.5011A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407652.1:c.5071A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407653.1:c.4993A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407654.1:c.4993A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407655.1:c.4993A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407656.1:c.4990A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407657.1:c.4990A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407658.1:c.4990A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407659.1:c.4987A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407660.1:c.4987A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407661.1:c.4987A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407662.1:c.4987A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407663.1:c.4987A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407664.1:c.4948A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407665.1:c.4948A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407666.1:c.4948A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407667.1:c.4948A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407668.1:c.4948A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407669.1:c.4948A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407670.1:c.4945A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407671.1:c.4945A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407672.1:c.4945A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407673.1:c.4945A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407674.1:c.4945A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407675.1:c.4945A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407676.1:c.4945A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407677.1:c.4945A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407678.1:c.4945A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407679.1:c.4945A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407680.1:c.4945A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407681.1:c.4942A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407682.1:c.4942A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407683.1:c.4942A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407684.1:c.5071A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407685.1:c.4942A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407686.1:c.4942A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407687.1:c.4942A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407688.1:c.4942A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407689.1:c.4942A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407690.1:c.4939A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407691.1:c.4939A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407692.1:c.4930A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407694.1:c.4930A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407695.1:c.4930A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407696.1:c.4930A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407697.1:c.4930A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407698.1:c.4930A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407724.1:c.4930A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407725.1:c.4930A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407726.1:c.4930A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407727.1:c.4930A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407728.1:c.4930A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407729.1:c.4930A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407730.1:c.4930A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407731.1:c.4930A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407732.1:c.4927A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407733.1:c.4927A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407734.1:c.4927A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407735.1:c.4927A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407736.1:c.4927A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407737.1:c.4927A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407738.1:c.4927A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407739.1:c.4927A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407740.1:c.4927A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407741.1:c.4927A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407742.1:c.4927A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407743.1:c.4927A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407744.1:c.4927A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407745.1:c.4927A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407746.1:c.4927A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407747.1:c.4927A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407748.1:c.4927A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407749.1:c.4927A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407750.1:c.4927A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407751.1:c.4927A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407752.1:c.4927A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407838.1:c.4924A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407839.1:c.4924A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407841.1:c.4924A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407842.1:c.4924A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407843.1:c.4924A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407844.1:c.4924A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407845.1:c.4924A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407846.1:c.4924A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407847.1:c.4924A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407848.1:c.4924A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407849.1:c.4924A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407850.1:c.4924A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407851.1:c.4924A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407852.1:c.4924A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407853.1:c.4924A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407854.1:c.5071A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407858.1:c.5068A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407859.1:c.5068A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407860.1:c.5068A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407861.1:c.5065A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407862.1:c.4870A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407863.1:c.4945A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407874.1:c.4864A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407875.1:c.4864A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407879.1:c.4861A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407881.1:c.4861A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407882.1:c.4861A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407884.1:c.4861A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407885.1:c.4861A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407886.1:c.4861A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407887.1:c.4861A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407889.1:c.4861A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407894.1:c.4858A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407895.1:c.4858A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407896.1:c.4858A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407897.1:c.4858A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407898.1:c.4858A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407899.1:c.4858A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407900.1:c.4858A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407902.1:c.4858A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407904.1:c.4858A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407906.1:c.4858A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407907.1:c.4858A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407908.1:c.4858A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407909.1:c.4858A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407910.1:c.4858A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407915.1:c.4855A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407916.1:c.4855A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407917.1:c.4855A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407918.1:c.4855A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407919.1:c.4948A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407920.1:c.4807A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407921.1:c.4807A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407922.1:c.4807A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407923.1:c.4807A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407924.1:c.4807A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407925.1:c.4807A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407926.1:c.4807A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407927.1:c.4804A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407928.1:c.4804A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407929.1:c.4804A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407930.1:c.4804A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407931.1:c.4804A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407932.1:c.4804A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407933.1:c.4804A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407934.1:c.4801A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407935.1:c.4801A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407936.1:c.4801A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407937.1:c.4948A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407938.1:c.4948A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407939.1:c.4945A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407940.1:c.4945A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407941.1:c.4942A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407942.1:c.4930A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407943.1:c.4927A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407944.1:c.4927A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407945.1:c.4927A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407946.1:c.4738A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407947.1:c.4738A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407948.1:c.4738A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407949.1:c.4738A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407950.1:c.4735A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407951.1:c.4735A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407952.1:c.4735A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407953.1:c.4735A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407954.1:c.4735A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407955.1:c.4735A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407956.1:c.4732A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407957.1:c.4732A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407958.1:c.4732A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407959.1:c.4690A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407960.1:c.4687A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407962.1:c.4687A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407963.1:c.4684A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407964.1:c.4609A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407965.1:c.4564A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407966.1:c.4183A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407967.1:c.4180A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407968.1:c.2467A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407969.1:c.2464A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407970.1:c.1828A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407971.1:c.1828A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407972.1:c.1825A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407973.1:c.1762A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407974.1:c.1762A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407975.1:c.1762A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407976.1:c.1762A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407977.1:c.1762A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407978.1:c.1762A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407979.1:c.1759A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407980.1:c.1759A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407981.1:c.1759A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407982.1:c.1759A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407983.1:c.1759A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407984.1:c.1759A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407985.1:c.1759A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407986.1:c.1759A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407990.1:c.1759A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407991.1:c.1759A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407992.1:c.1759A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407993.1:c.1759A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408392.1:c.1756A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408396.1:c.1756A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408397.1:c.1756A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408398.1:c.1756A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408399.1:c.1756A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408400.1:c.1756A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408401.1:c.1756A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408402.1:c.1756A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408403.1:c.1756A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408404.1:c.1756A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408406.1:c.1753A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408407.1:c.1753A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408408.1:c.1753A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408409.1:c.1750A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408410.1:c.1687A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408411.1:c.1684A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408412.1:c.1681A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408413.1:c.1681A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408414.1:c.1681A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408415.1:c.1681A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408416.1:c.1681A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408418.1:c.1645A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408419.1:c.1645A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408420.1:c.1645A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408421.1:c.1642A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408422.1:c.1642A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408423.1:c.1642A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408424.1:c.1642A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408425.1:c.1639A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408426.1:c.1639A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408427.1:c.1639A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408428.1:c.1639A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408429.1:c.1639A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408430.1:c.1639A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408431.1:c.1639A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408432.1:c.1636A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408433.1:c.1636A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408434.1:c.1636A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408435.1:c.1636A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408436.1:c.1636A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408437.1:c.1636A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408438.1:c.1636A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408439.1:c.1636A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408440.1:c.1636A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408441.1:c.1636A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408442.1:c.1636A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408443.1:c.1636A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408444.1:c.1636A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408445.1:c.1633A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408446.1:c.1633A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408447.1:c.1633A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408448.1:c.1633A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408450.1:c.1633A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408451.1:c.1627A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408452.1:c.1621A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408453.1:c.1621A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408454.1:c.1621A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408455.1:c.1621A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408456.1:c.1621A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408457.1:c.1621A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408458.1:c.1618A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408459.1:c.1618A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408460.1:c.1618A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408461.1:c.1618A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408462.1:c.1618A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408463.1:c.1618A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408464.1:c.1618A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408465.1:c.1618A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408466.1:c.1618A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408467.1:c.1618A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408468.1:c.1615A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408469.1:c.1615A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408470.1:c.1615A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408472.1:c.1759A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408473.1:c.1756A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408474.1:c.1561A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408475.1:c.1558A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408476.1:c.1558A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408478.1:c.1552A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408479.1:c.1552A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408480.1:c.1552A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408481.1:c.1549A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408482.1:c.1549A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408483.1:c.1549A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408484.1:c.1549A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408485.1:c.1549A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408489.1:c.1549A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408490.1:c.1549A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408491.1:c.1549A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408492.1:c.1546A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408493.1:c.1546A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408494.1:c.1522A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408495.1:c.1516A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408496.1:c.1498A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408497.1:c.1498A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408498.1:c.1498A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408499.1:c.1498A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408500.1:c.1498A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408501.1:c.1498A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408502.1:c.1495A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408503.1:c.1495A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408504.1:c.1495A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408505.1:c.1492A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408506.1:c.1435A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408507.1:c.1432A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408508.1:c.1423A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408509.1:c.1420A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408510.1:c.1381A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408511.1:c.1378A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408512.1:c.1258A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408513.1:c.1231A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007294.4:c.5071A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007297.4:c.4930A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007298.4:c.1759A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007299.4:c.1759A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007300.4:c.5134A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007304.2:c.1759A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NR_027676.2:n.5248A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
Functional consequence:
function_uncertain_variant [Sequence Ontology: SO:0002220] - Comment(s)
Observations:
1

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
SCV000665875Ambry Genetics
criteria provided, single submitter

(Ambry General Variant Classification Scheme_2022)		Likely benign
(Mar 31, 2020) 		germlineclinical testing

PubMed (6)
[See all records that cite these PMIDs]

Citation Link,

SCV000683246Color Diagnostics, LLC DBA Color Health
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Nov 3, 2022) 		germlineclinical testing

PubMed (4)
[See all records that cite these PMIDs]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot provided1not providedclinical testing

Citations

PubMed

Description and analysis of genetic variants in French hereditary breast and ovarian cancer families recorded in the UMD-BRCA1/BRCA2 databases.

Caputo S, Benboudjema L, Sinilnikova O, Rouleau E, Béroud C, Lidereau R; French BRCA GGC Consortium..

Nucleic Acids Res. 2012 Jan;40(Database issue):D992-1002. doi: 10.1093/nar/gkr1160. Epub 2011 Dec 5.

PubMed [citation]
PMID:
22144684
PMCID:
PMC3245050

Guidelines for splicing analysis in molecular diagnosis derived from a set of 327 combined in silico/in vitro studies on BRCA1 and BRCA2 variants.

Houdayer C, Caux-Moncoutier V, Krieger S, Barrois M, Bonnet F, Bourdon V, Bronner M, Buisson M, Coulet F, Gaildrat P, Lefol C, Léone M, Mazoyer S, Muller D, Remenieras A, Révillion F, Rouleau E, Sokolowska J, Vert JP, Lidereau R, Soubrier F, Sobol H, et al.

Hum Mutat. 2012 Aug;33(8):1228-38. doi: 10.1002/humu.22101. Epub 2012 May 11.

PubMed [citation]
PMID:
22505045
See all PubMed Citations (7)

Details of each submission

From Ambry Genetics, SCV000665875.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (6)

Description

This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknown1not providednot provided1not providednot providednot provided

From Color Diagnostics, LLC DBA Color Health, SCV000683246.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (4)

Description

This missense variant replaces threonine with alanine at codon 1691 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). Functional studies have reported that this variant does not impact BRCA1 function in homology-directed repair, subcellular localization and phosphopeptide binding assays (PMID: 30257991) and the variant retains intermediate activity in a haploid cell proliferation assay (PMID: 30209399). This variant has been reported in an individual affected with ovarian cancer (PMID 24504028). This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.

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

Last Updated: Mar 30, 2024