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NM_007294.4(BRCA1):c.5255C>G (p.Ala1752Gly) AND Hereditary breast ovarian cancer syndrome

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jan 9, 2023
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV001050415.8

Allele description [Variation Report for NM_007294.4(BRCA1):c.5255C>G (p.Ala1752Gly)]

NM_007294.4(BRCA1):c.5255C>G (p.Ala1752Gly)

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.5255C>G (p.Ala1752Gly)
HGVS:
  • NC_000017.11:g.43057074G>C
  • NG_005905.2:g.160910C>G
  • NM_001407571.1:c.5042C>G
  • NM_001407581.1:c.5321C>G
  • NM_001407582.1:c.5321C>G
  • NM_001407583.1:c.5318C>G
  • NM_001407585.1:c.5318C>G
  • NM_001407587.1:c.5318C>G
  • NM_001407590.1:c.5315C>G
  • NM_001407591.1:c.5315C>G
  • NM_001407593.1:c.5255C>G
  • NM_001407594.1:c.5255C>G
  • NM_001407596.1:c.5255C>G
  • NM_001407597.1:c.5255C>G
  • NM_001407598.1:c.5255C>G
  • NM_001407602.1:c.5255C>G
  • NM_001407603.1:c.5255C>G
  • NM_001407605.1:c.5255C>G
  • NM_001407610.1:c.5252C>G
  • NM_001407611.1:c.5252C>G
  • NM_001407612.1:c.5252C>G
  • NM_001407613.1:c.5252C>G
  • NM_001407614.1:c.5252C>G
  • NM_001407615.1:c.5252C>G
  • NM_001407616.1:c.5252C>G
  • NM_001407617.1:c.5252C>G
  • NM_001407618.1:c.5252C>G
  • NM_001407619.1:c.5252C>G
  • NM_001407620.1:c.5252C>G
  • NM_001407621.1:c.5252C>G
  • NM_001407622.1:c.5252C>G
  • NM_001407623.1:c.5252C>G
  • NM_001407624.1:c.5252C>G
  • NM_001407625.1:c.5252C>G
  • NM_001407626.1:c.5252C>G
  • NM_001407627.1:c.5249C>G
  • NM_001407628.1:c.5249C>G
  • NM_001407629.1:c.5249C>G
  • NM_001407630.1:c.5249C>G
  • NM_001407631.1:c.5249C>G
  • NM_001407632.1:c.5249C>G
  • NM_001407633.1:c.5249C>G
  • NM_001407634.1:c.5249C>G
  • NM_001407635.1:c.5249C>G
  • NM_001407636.1:c.5249C>G
  • NM_001407637.1:c.5249C>G
  • NM_001407638.1:c.5249C>G
  • NM_001407639.1:c.5249C>G
  • NM_001407640.1:c.5249C>G
  • NM_001407641.1:c.5249C>G
  • NM_001407642.1:c.5249C>G
  • NM_001407644.1:c.5246C>G
  • NM_001407645.1:c.5246C>G
  • NM_001407646.1:c.5243C>G
  • NM_001407647.1:c.5240C>G
  • NM_001407648.1:c.5198C>G
  • NM_001407649.1:c.5195C>G
  • NM_001407652.1:c.5177C>G
  • NM_001407653.1:c.5177C>G
  • NM_001407654.1:c.5177C>G
  • NM_001407655.1:c.5177C>G
  • NM_001407656.1:c.5174C>G
  • NM_001407657.1:c.5174C>G
  • NM_001407658.1:c.5174C>G
  • NM_001407659.1:c.5171C>G
  • NM_001407660.1:c.5171C>G
  • NM_001407661.1:c.5171C>G
  • NM_001407662.1:c.5171C>G
  • NM_001407663.1:c.5171C>G
  • NM_001407664.1:c.5132C>G
  • NM_001407665.1:c.5132C>G
  • NM_001407666.1:c.5132C>G
  • NM_001407667.1:c.5132C>G
  • NM_001407668.1:c.5132C>G
  • NM_001407669.1:c.5132C>G
  • NM_001407670.1:c.5129C>G
  • NM_001407671.1:c.5129C>G
  • NM_001407672.1:c.5129C>G
  • NM_001407673.1:c.5129C>G
  • NM_001407674.1:c.5129C>G
  • NM_001407675.1:c.5129C>G
  • NM_001407676.1:c.5129C>G
  • NM_001407677.1:c.5129C>G
  • NM_001407678.1:c.5129C>G
  • NM_001407679.1:c.5129C>G
  • NM_001407680.1:c.5129C>G
  • NM_001407681.1:c.5126C>G
  • NM_001407682.1:c.5126C>G
  • NM_001407683.1:c.5126C>G
  • NM_001407684.1:c.5255C>G
  • NM_001407685.1:c.5126C>G
  • NM_001407686.1:c.5126C>G
  • NM_001407687.1:c.5126C>G
  • NM_001407688.1:c.5126C>G
  • NM_001407689.1:c.5126C>G
  • NM_001407690.1:c.5123C>G
  • NM_001407691.1:c.5123C>G
  • NM_001407692.1:c.5114C>G
  • NM_001407694.1:c.5114C>G
  • NM_001407695.1:c.5114C>G
  • NM_001407696.1:c.5114C>G
  • NM_001407697.1:c.5114C>G
  • NM_001407698.1:c.5114C>G
  • NM_001407724.1:c.5114C>G
  • NM_001407725.1:c.5114C>G
  • NM_001407726.1:c.5114C>G
  • NM_001407727.1:c.5114C>G
  • NM_001407728.1:c.5114C>G
  • NM_001407729.1:c.5114C>G
  • NM_001407730.1:c.5114C>G
  • NM_001407731.1:c.5114C>G
  • NM_001407732.1:c.5111C>G
  • NM_001407733.1:c.5111C>G
  • NM_001407734.1:c.5111C>G
  • NM_001407735.1:c.5111C>G
  • NM_001407736.1:c.5111C>G
  • NM_001407737.1:c.5111C>G
  • NM_001407738.1:c.5111C>G
  • NM_001407739.1:c.5111C>G
  • NM_001407740.1:c.5111C>G
  • NM_001407741.1:c.5111C>G
  • NM_001407742.1:c.5111C>G
  • NM_001407743.1:c.5111C>G
  • NM_001407744.1:c.5111C>G
  • NM_001407745.1:c.5111C>G
  • NM_001407746.1:c.5111C>G
  • NM_001407747.1:c.5111C>G
  • NM_001407748.1:c.5111C>G
  • NM_001407749.1:c.5111C>G
  • NM_001407750.1:c.5111C>G
  • NM_001407751.1:c.5111C>G
  • NM_001407752.1:c.5111C>G
  • NM_001407838.1:c.5108C>G
  • NM_001407839.1:c.5108C>G
  • NM_001407841.1:c.5108C>G
  • NM_001407842.1:c.5108C>G
  • NM_001407843.1:c.5108C>G
  • NM_001407844.1:c.5108C>G
  • NM_001407845.1:c.5108C>G
  • NM_001407846.1:c.5108C>G
  • NM_001407847.1:c.5108C>G
  • NM_001407848.1:c.5108C>G
  • NM_001407849.1:c.5108C>G
  • NM_001407850.1:c.5108C>G
  • NM_001407851.1:c.5108C>G
  • NM_001407852.1:c.5108C>G
  • NM_001407853.1:c.5108C>G
  • NM_001407854.1:c.5255C>G
  • NM_001407858.1:c.5252C>G
  • NM_001407859.1:c.5252C>G
  • NM_001407860.1:c.5252C>G
  • NM_001407861.1:c.5249C>G
  • NM_001407862.1:c.5054C>G
  • NM_001407863.1:c.5051C>G
  • NM_001407874.1:c.5048C>G
  • NM_001407875.1:c.5048C>G
  • NM_001407879.1:c.5045C>G
  • NM_001407881.1:c.5045C>G
  • NM_001407882.1:c.5045C>G
  • NM_001407884.1:c.5045C>G
  • NM_001407885.1:c.5045C>G
  • NM_001407886.1:c.5045C>G
  • NM_001407887.1:c.5045C>G
  • NM_001407889.1:c.5045C>G
  • NM_001407894.1:c.5042C>G
  • NM_001407895.1:c.5042C>G
  • NM_001407896.1:c.5042C>G
  • NM_001407897.1:c.5042C>G
  • NM_001407898.1:c.5042C>G
  • NM_001407899.1:c.5042C>G
  • NM_001407900.1:c.5042C>G
  • NM_001407902.1:c.5042C>G
  • NM_001407904.1:c.5042C>G
  • NM_001407906.1:c.5042C>G
  • NM_001407907.1:c.5042C>G
  • NM_001407908.1:c.5042C>G
  • NM_001407909.1:c.5042C>G
  • NM_001407910.1:c.5042C>G
  • NM_001407915.1:c.5039C>G
  • NM_001407916.1:c.5039C>G
  • NM_001407917.1:c.5039C>G
  • NM_001407918.1:c.5039C>G
  • NM_001407919.1:c.5132C>G
  • NM_001407920.1:c.4991C>G
  • NM_001407921.1:c.4991C>G
  • NM_001407922.1:c.4991C>G
  • NM_001407923.1:c.4991C>G
  • NM_001407924.1:c.4991C>G
  • NM_001407925.1:c.4991C>G
  • NM_001407926.1:c.4991C>G
  • NM_001407927.1:c.4988C>G
  • NM_001407928.1:c.4988C>G
  • NM_001407929.1:c.4988C>G
  • NM_001407930.1:c.4988C>G
  • NM_001407931.1:c.4988C>G
  • NM_001407932.1:c.4988C>G
  • NM_001407933.1:c.4988C>G
  • NM_001407934.1:c.4985C>G
  • NM_001407935.1:c.4985C>G
  • NM_001407936.1:c.4985C>G
  • NM_001407937.1:c.5132C>G
  • NM_001407938.1:c.5132C>G
  • NM_001407939.1:c.5129C>G
  • NM_001407940.1:c.5129C>G
  • NM_001407941.1:c.5126C>G
  • NM_001407942.1:c.5114C>G
  • NM_001407943.1:c.5111C>G
  • NM_001407944.1:c.5111C>G
  • NM_001407945.1:c.5111C>G
  • NM_001407946.1:c.4922C>G
  • NM_001407947.1:c.4922C>G
  • NM_001407948.1:c.4922C>G
  • NM_001407949.1:c.4922C>G
  • NM_001407950.1:c.4919C>G
  • NM_001407951.1:c.4919C>G
  • NM_001407952.1:c.4919C>G
  • NM_001407953.1:c.4919C>G
  • NM_001407954.1:c.4919C>G
  • NM_001407955.1:c.4919C>G
  • NM_001407956.1:c.4916C>G
  • NM_001407957.1:c.4916C>G
  • NM_001407958.1:c.4916C>G
  • NM_001407959.1:c.4874C>G
  • NM_001407960.1:c.4871C>G
  • NM_001407962.1:c.4871C>G
  • NM_001407963.1:c.4868C>G
  • NM_001407964.1:c.4793C>G
  • NM_001407965.1:c.4748C>G
  • NM_001407966.1:c.4367C>G
  • NM_001407967.1:c.4364C>G
  • NM_001407968.1:c.2651C>G
  • NM_001407969.1:c.2648C>G
  • NM_001407970.1:c.2012C>G
  • NM_001407971.1:c.2012C>G
  • NM_001407972.1:c.2009C>G
  • NM_001407973.1:c.1946C>G
  • NM_001407974.1:c.1946C>G
  • NM_001407975.1:c.1946C>G
  • NM_001407976.1:c.1946C>G
  • NM_001407977.1:c.1946C>G
  • NM_001407978.1:c.1946C>G
  • NM_001407979.1:c.1943C>G
  • NM_001407980.1:c.1943C>G
  • NM_001407981.1:c.1943C>G
  • NM_001407982.1:c.1943C>G
  • NM_001407983.1:c.1943C>G
  • NM_001407984.1:c.1943C>G
  • NM_001407985.1:c.1943C>G
  • NM_001407986.1:c.1943C>G
  • NM_001407990.1:c.1943C>G
  • NM_001407991.1:c.1943C>G
  • NM_001407992.1:c.1943C>G
  • NM_001407993.1:c.1943C>G
  • NM_001408392.1:c.1940C>G
  • NM_001408396.1:c.1940C>G
  • NM_001408397.1:c.1940C>G
  • NM_001408398.1:c.1940C>G
  • NM_001408399.1:c.1940C>G
  • NM_001408400.1:c.1940C>G
  • NM_001408401.1:c.1940C>G
  • NM_001408402.1:c.1940C>G
  • NM_001408403.1:c.1940C>G
  • NM_001408404.1:c.1940C>G
  • NM_001408406.1:c.1937C>G
  • NM_001408407.1:c.1937C>G
  • NM_001408408.1:c.1937C>G
  • NM_001408409.1:c.1934C>G
  • NM_001408410.1:c.1871C>G
  • NM_001408411.1:c.1868C>G
  • NM_001408412.1:c.1865C>G
  • NM_001408413.1:c.1865C>G
  • NM_001408414.1:c.1865C>G
  • NM_001408415.1:c.1865C>G
  • NM_001408416.1:c.1865C>G
  • NM_001408418.1:c.1829C>G
  • NM_001408419.1:c.1829C>G
  • NM_001408420.1:c.1829C>G
  • NM_001408421.1:c.1826C>G
  • NM_001408422.1:c.1826C>G
  • NM_001408423.1:c.1826C>G
  • NM_001408424.1:c.1826C>G
  • NM_001408425.1:c.1823C>G
  • NM_001408426.1:c.1823C>G
  • NM_001408427.1:c.1823C>G
  • NM_001408428.1:c.1823C>G
  • NM_001408429.1:c.1823C>G
  • NM_001408430.1:c.1823C>G
  • NM_001408431.1:c.1823C>G
  • NM_001408432.1:c.1820C>G
  • NM_001408433.1:c.1820C>G
  • NM_001408434.1:c.1820C>G
  • NM_001408435.1:c.1820C>G
  • NM_001408436.1:c.1820C>G
  • NM_001408437.1:c.1820C>G
  • NM_001408438.1:c.1820C>G
  • NM_001408439.1:c.1820C>G
  • NM_001408440.1:c.1820C>G
  • NM_001408441.1:c.1820C>G
  • NM_001408442.1:c.1820C>G
  • NM_001408443.1:c.1820C>G
  • NM_001408444.1:c.1820C>G
  • NM_001408445.1:c.1817C>G
  • NM_001408446.1:c.1817C>G
  • NM_001408447.1:c.1817C>G
  • NM_001408448.1:c.1817C>G
  • NM_001408450.1:c.1817C>G
  • NM_001408451.1:c.1811C>G
  • NM_001408452.1:c.1805C>G
  • NM_001408453.1:c.1805C>G
  • NM_001408454.1:c.1805C>G
  • NM_001408455.1:c.1805C>G
  • NM_001408456.1:c.1805C>G
  • NM_001408457.1:c.1805C>G
  • NM_001408458.1:c.1802C>G
  • NM_001408459.1:c.1802C>G
  • NM_001408460.1:c.1802C>G
  • NM_001408461.1:c.1802C>G
  • NM_001408462.1:c.1802C>G
  • NM_001408463.1:c.1802C>G
  • NM_001408464.1:c.1802C>G
  • NM_001408465.1:c.1802C>G
  • NM_001408466.1:c.1802C>G
  • NM_001408467.1:c.1802C>G
  • NM_001408468.1:c.1799C>G
  • NM_001408469.1:c.1799C>G
  • NM_001408470.1:c.1799C>G
  • NM_001408472.1:c.1943C>G
  • NM_001408473.1:c.1940C>G
  • NM_001408474.1:c.1745C>G
  • NM_001408475.1:c.1742C>G
  • NM_001408476.1:c.1742C>G
  • NM_001408478.1:c.1736C>G
  • NM_001408479.1:c.1736C>G
  • NM_001408480.1:c.1736C>G
  • NM_001408481.1:c.1733C>G
  • NM_001408482.1:c.1733C>G
  • NM_001408483.1:c.1733C>G
  • NM_001408484.1:c.1733C>G
  • NM_001408485.1:c.1733C>G
  • NM_001408489.1:c.1733C>G
  • NM_001408490.1:c.1733C>G
  • NM_001408491.1:c.1733C>G
  • NM_001408492.1:c.1730C>G
  • NM_001408493.1:c.1730C>G
  • NM_001408494.1:c.1706C>G
  • NM_001408495.1:c.1700C>G
  • NM_001408496.1:c.1682C>G
  • NM_001408497.1:c.1682C>G
  • NM_001408498.1:c.1682C>G
  • NM_001408499.1:c.1682C>G
  • NM_001408500.1:c.1682C>G
  • NM_001408501.1:c.1682C>G
  • NM_001408502.1:c.1679C>G
  • NM_001408503.1:c.1679C>G
  • NM_001408504.1:c.1679C>G
  • NM_001408505.1:c.1676C>G
  • NM_001408506.1:c.1619C>G
  • NM_001408507.1:c.1616C>G
  • NM_001408508.1:c.1607C>G
  • NM_001408509.1:c.1604C>G
  • NM_001408510.1:c.1565C>G
  • NM_001408511.1:c.1562C>G
  • NM_001408512.1:c.1442C>G
  • NM_001408513.1:c.1415C>G
  • NM_001408514.1:c.1019C>G
  • NM_007294.4:c.5255C>GMANE SELECT
  • NM_007297.4:c.5114C>G
  • NM_007298.4:c.1943C>G
  • NM_007299.4:c.1943C>G
  • NM_007300.4:c.5318C>G
  • NM_007304.2:c.1943C>G
  • NP_001394500.1:p.Ala1681Gly
  • NP_001394510.1:p.Ala1774Gly
  • NP_001394511.1:p.Ala1774Gly
  • NP_001394512.1:p.Ala1773Gly
  • NP_001394514.1:p.Ala1773Gly
  • NP_001394516.1:p.Ala1773Gly
  • NP_001394519.1:p.Ala1772Gly
  • NP_001394520.1:p.Ala1772Gly
  • NP_001394522.1:p.Ala1752Gly
  • NP_001394523.1:p.Ala1752Gly
  • NP_001394525.1:p.Ala1752Gly
  • NP_001394526.1:p.Ala1752Gly
  • NP_001394527.1:p.Ala1752Gly
  • NP_001394531.1:p.Ala1752Gly
  • NP_001394532.1:p.Ala1752Gly
  • NP_001394534.1:p.Ala1752Gly
  • NP_001394539.1:p.Ala1751Gly
  • NP_001394540.1:p.Ala1751Gly
  • NP_001394541.1:p.Ala1751Gly
  • NP_001394542.1:p.Ala1751Gly
  • NP_001394543.1:p.Ala1751Gly
  • NP_001394544.1:p.Ala1751Gly
  • NP_001394545.1:p.Ala1751Gly
  • NP_001394546.1:p.Ala1751Gly
  • NP_001394547.1:p.Ala1751Gly
  • NP_001394548.1:p.Ala1751Gly
  • NP_001394549.1:p.Ala1751Gly
  • NP_001394550.1:p.Ala1751Gly
  • NP_001394551.1:p.Ala1751Gly
  • NP_001394552.1:p.Ala1751Gly
  • NP_001394553.1:p.Ala1751Gly
  • NP_001394554.1:p.Ala1751Gly
  • NP_001394555.1:p.Ala1751Gly
  • NP_001394556.1:p.Ala1750Gly
  • NP_001394557.1:p.Ala1750Gly
  • NP_001394558.1:p.Ala1750Gly
  • NP_001394559.1:p.Ala1750Gly
  • NP_001394560.1:p.Ala1750Gly
  • NP_001394561.1:p.Ala1750Gly
  • NP_001394562.1:p.Ala1750Gly
  • NP_001394563.1:p.Ala1750Gly
  • NP_001394564.1:p.Ala1750Gly
  • NP_001394565.1:p.Ala1750Gly
  • NP_001394566.1:p.Ala1750Gly
  • NP_001394567.1:p.Ala1750Gly
  • NP_001394568.1:p.Ala1750Gly
  • NP_001394569.1:p.Ala1750Gly
  • NP_001394570.1:p.Ala1750Gly
  • NP_001394571.1:p.Ala1750Gly
  • NP_001394573.1:p.Ala1749Gly
  • NP_001394574.1:p.Ala1749Gly
  • NP_001394575.1:p.Ala1748Gly
  • NP_001394576.1:p.Ala1747Gly
  • NP_001394577.1:p.Ala1733Gly
  • NP_001394578.1:p.Ala1732Gly
  • NP_001394581.1:p.Ala1726Gly
  • NP_001394582.1:p.Ala1726Gly
  • NP_001394583.1:p.Ala1726Gly
  • NP_001394584.1:p.Ala1726Gly
  • NP_001394585.1:p.Ala1725Gly
  • NP_001394586.1:p.Ala1725Gly
  • NP_001394587.1:p.Ala1725Gly
  • NP_001394588.1:p.Ala1724Gly
  • NP_001394589.1:p.Ala1724Gly
  • NP_001394590.1:p.Ala1724Gly
  • NP_001394591.1:p.Ala1724Gly
  • NP_001394592.1:p.Ala1724Gly
  • NP_001394593.1:p.Ala1711Gly
  • NP_001394594.1:p.Ala1711Gly
  • NP_001394595.1:p.Ala1711Gly
  • NP_001394596.1:p.Ala1711Gly
  • NP_001394597.1:p.Ala1711Gly
  • NP_001394598.1:p.Ala1711Gly
  • NP_001394599.1:p.Ala1710Gly
  • NP_001394600.1:p.Ala1710Gly
  • NP_001394601.1:p.Ala1710Gly
  • NP_001394602.1:p.Ala1710Gly
  • NP_001394603.1:p.Ala1710Gly
  • NP_001394604.1:p.Ala1710Gly
  • NP_001394605.1:p.Ala1710Gly
  • NP_001394606.1:p.Ala1710Gly
  • NP_001394607.1:p.Ala1710Gly
  • NP_001394608.1:p.Ala1710Gly
  • NP_001394609.1:p.Ala1710Gly
  • NP_001394610.1:p.Ala1709Gly
  • NP_001394611.1:p.Ala1709Gly
  • NP_001394612.1:p.Ala1709Gly
  • NP_001394613.1:p.Ala1752Gly
  • NP_001394614.1:p.Ala1709Gly
  • NP_001394615.1:p.Ala1709Gly
  • NP_001394616.1:p.Ala1709Gly
  • NP_001394617.1:p.Ala1709Gly
  • NP_001394618.1:p.Ala1709Gly
  • NP_001394619.1:p.Ala1708Gly
  • NP_001394620.1:p.Ala1708Gly
  • NP_001394621.1:p.Ala1705Gly
  • NP_001394623.1:p.Ala1705Gly
  • NP_001394624.1:p.Ala1705Gly
  • NP_001394625.1:p.Ala1705Gly
  • NP_001394626.1:p.Ala1705Gly
  • NP_001394627.1:p.Ala1705Gly
  • NP_001394653.1:p.Ala1705Gly
  • NP_001394654.1:p.Ala1705Gly
  • NP_001394655.1:p.Ala1705Gly
  • NP_001394656.1:p.Ala1705Gly
  • NP_001394657.1:p.Ala1705Gly
  • NP_001394658.1:p.Ala1705Gly
  • NP_001394659.1:p.Ala1705Gly
  • NP_001394660.1:p.Ala1705Gly
  • NP_001394661.1:p.Ala1704Gly
  • NP_001394662.1:p.Ala1704Gly
  • NP_001394663.1:p.Ala1704Gly
  • NP_001394664.1:p.Ala1704Gly
  • NP_001394665.1:p.Ala1704Gly
  • NP_001394666.1:p.Ala1704Gly
  • NP_001394667.1:p.Ala1704Gly
  • NP_001394668.1:p.Ala1704Gly
  • NP_001394669.1:p.Ala1704Gly
  • NP_001394670.1:p.Ala1704Gly
  • NP_001394671.1:p.Ala1704Gly
  • NP_001394672.1:p.Ala1704Gly
  • NP_001394673.1:p.Ala1704Gly
  • NP_001394674.1:p.Ala1704Gly
  • NP_001394675.1:p.Ala1704Gly
  • NP_001394676.1:p.Ala1704Gly
  • NP_001394677.1:p.Ala1704Gly
  • NP_001394678.1:p.Ala1704Gly
  • NP_001394679.1:p.Ala1704Gly
  • NP_001394680.1:p.Ala1704Gly
  • NP_001394681.1:p.Ala1704Gly
  • NP_001394767.1:p.Ala1703Gly
  • NP_001394768.1:p.Ala1703Gly
  • NP_001394770.1:p.Ala1703Gly
  • NP_001394771.1:p.Ala1703Gly
  • NP_001394772.1:p.Ala1703Gly
  • NP_001394773.1:p.Ala1703Gly
  • NP_001394774.1:p.Ala1703Gly
  • NP_001394775.1:p.Ala1703Gly
  • NP_001394776.1:p.Ala1703Gly
  • NP_001394777.1:p.Ala1703Gly
  • NP_001394778.1:p.Ala1703Gly
  • NP_001394779.1:p.Ala1703Gly
  • NP_001394780.1:p.Ala1703Gly
  • NP_001394781.1:p.Ala1703Gly
  • NP_001394782.1:p.Ala1703Gly
  • NP_001394783.1:p.Ala1752Gly
  • NP_001394787.1:p.Ala1751Gly
  • NP_001394788.1:p.Ala1751Gly
  • NP_001394789.1:p.Ala1751Gly
  • NP_001394790.1:p.Ala1750Gly
  • NP_001394791.1:p.Ala1685Gly
  • NP_001394792.1:p.Ala1684Gly
  • NP_001394803.1:p.Ala1683Gly
  • NP_001394804.1:p.Ala1683Gly
  • NP_001394808.1:p.Ala1682Gly
  • NP_001394810.1:p.Ala1682Gly
  • NP_001394811.1:p.Ala1682Gly
  • NP_001394813.1:p.Ala1682Gly
  • NP_001394814.1:p.Ala1682Gly
  • NP_001394815.1:p.Ala1682Gly
  • NP_001394816.1:p.Ala1682Gly
  • NP_001394818.1:p.Ala1682Gly
  • NP_001394823.1:p.Ala1681Gly
  • NP_001394824.1:p.Ala1681Gly
  • NP_001394825.1:p.Ala1681Gly
  • NP_001394826.1:p.Ala1681Gly
  • NP_001394827.1:p.Ala1681Gly
  • NP_001394828.1:p.Ala1681Gly
  • NP_001394829.1:p.Ala1681Gly
  • NP_001394831.1:p.Ala1681Gly
  • NP_001394833.1:p.Ala1681Gly
  • NP_001394835.1:p.Ala1681Gly
  • NP_001394836.1:p.Ala1681Gly
  • NP_001394837.1:p.Ala1681Gly
  • NP_001394838.1:p.Ala1681Gly
  • NP_001394839.1:p.Ala1681Gly
  • NP_001394844.1:p.Ala1680Gly
  • NP_001394845.1:p.Ala1680Gly
  • NP_001394846.1:p.Ala1680Gly
  • NP_001394847.1:p.Ala1680Gly
  • NP_001394848.1:p.Ala1711Gly
  • NP_001394849.1:p.Ala1664Gly
  • NP_001394850.1:p.Ala1664Gly
  • NP_001394851.1:p.Ala1664Gly
  • NP_001394852.1:p.Ala1664Gly
  • NP_001394853.1:p.Ala1664Gly
  • NP_001394854.1:p.Ala1664Gly
  • NP_001394855.1:p.Ala1664Gly
  • NP_001394856.1:p.Ala1663Gly
  • NP_001394857.1:p.Ala1663Gly
  • NP_001394858.1:p.Ala1663Gly
  • NP_001394859.1:p.Ala1663Gly
  • NP_001394860.1:p.Ala1663Gly
  • NP_001394861.1:p.Ala1663Gly
  • NP_001394862.1:p.Ala1663Gly
  • NP_001394863.1:p.Ala1662Gly
  • NP_001394864.1:p.Ala1662Gly
  • NP_001394865.1:p.Ala1662Gly
  • NP_001394866.1:p.Ala1711Gly
  • NP_001394867.1:p.Ala1711Gly
  • NP_001394868.1:p.Ala1710Gly
  • NP_001394869.1:p.Ala1710Gly
  • NP_001394870.1:p.Ala1709Gly
  • NP_001394871.1:p.Ala1705Gly
  • NP_001394872.1:p.Ala1704Gly
  • NP_001394873.1:p.Ala1704Gly
  • NP_001394874.1:p.Ala1704Gly
  • NP_001394875.1:p.Ala1641Gly
  • NP_001394876.1:p.Ala1641Gly
  • NP_001394877.1:p.Ala1641Gly
  • NP_001394878.1:p.Ala1641Gly
  • NP_001394879.1:p.Ala1640Gly
  • NP_001394880.1:p.Ala1640Gly
  • NP_001394881.1:p.Ala1640Gly
  • NP_001394882.1:p.Ala1640Gly
  • NP_001394883.1:p.Ala1640Gly
  • NP_001394884.1:p.Ala1640Gly
  • NP_001394885.1:p.Ala1639Gly
  • NP_001394886.1:p.Ala1639Gly
  • NP_001394887.1:p.Ala1639Gly
  • NP_001394888.1:p.Ala1625Gly
  • NP_001394889.1:p.Ala1624Gly
  • NP_001394891.1:p.Ala1624Gly
  • NP_001394892.1:p.Ala1623Gly
  • NP_001394893.1:p.Ala1598Gly
  • NP_001394894.1:p.Ala1583Gly
  • NP_001394895.1:p.Ala1456Gly
  • NP_001394896.1:p.Ala1455Gly
  • NP_001394897.1:p.Ala884Gly
  • NP_001394898.1:p.Ala883Gly
  • NP_001394899.1:p.Ala671Gly
  • NP_001394900.1:p.Ala671Gly
  • NP_001394901.1:p.Ala670Gly
  • NP_001394902.1:p.Ala649Gly
  • NP_001394903.1:p.Ala649Gly
  • NP_001394904.1:p.Ala649Gly
  • NP_001394905.1:p.Ala649Gly
  • NP_001394906.1:p.Ala649Gly
  • NP_001394907.1:p.Ala649Gly
  • NP_001394908.1:p.Ala648Gly
  • NP_001394909.1:p.Ala648Gly
  • NP_001394910.1:p.Ala648Gly
  • NP_001394911.1:p.Ala648Gly
  • NP_001394912.1:p.Ala648Gly
  • NP_001394913.1:p.Ala648Gly
  • NP_001394914.1:p.Ala648Gly
  • NP_001394915.1:p.Ala648Gly
  • NP_001394919.1:p.Ala648Gly
  • NP_001394920.1:p.Ala648Gly
  • NP_001394921.1:p.Ala648Gly
  • NP_001394922.1:p.Ala648Gly
  • NP_001395321.1:p.Ala647Gly
  • NP_001395325.1:p.Ala647Gly
  • NP_001395326.1:p.Ala647Gly
  • NP_001395327.1:p.Ala647Gly
  • NP_001395328.1:p.Ala647Gly
  • NP_001395329.1:p.Ala647Gly
  • NP_001395330.1:p.Ala647Gly
  • NP_001395331.1:p.Ala647Gly
  • NP_001395332.1:p.Ala647Gly
  • NP_001395333.1:p.Ala647Gly
  • NP_001395335.1:p.Ala646Gly
  • NP_001395336.1:p.Ala646Gly
  • NP_001395337.1:p.Ala646Gly
  • NP_001395338.1:p.Ala645Gly
  • NP_001395339.1:p.Ala624Gly
  • NP_001395340.1:p.Ala623Gly
  • NP_001395341.1:p.Ala622Gly
  • NP_001395342.1:p.Ala622Gly
  • NP_001395343.1:p.Ala622Gly
  • NP_001395344.1:p.Ala622Gly
  • NP_001395345.1:p.Ala622Gly
  • NP_001395347.1:p.Ala610Gly
  • NP_001395348.1:p.Ala610Gly
  • NP_001395349.1:p.Ala610Gly
  • NP_001395350.1:p.Ala609Gly
  • NP_001395351.1:p.Ala609Gly
  • NP_001395352.1:p.Ala609Gly
  • NP_001395353.1:p.Ala609Gly
  • NP_001395354.1:p.Ala608Gly
  • NP_001395355.1:p.Ala608Gly
  • NP_001395356.1:p.Ala608Gly
  • NP_001395357.1:p.Ala608Gly
  • NP_001395358.1:p.Ala608Gly
  • NP_001395359.1:p.Ala608Gly
  • NP_001395360.1:p.Ala608Gly
  • NP_001395361.1:p.Ala607Gly
  • NP_001395362.1:p.Ala607Gly
  • NP_001395363.1:p.Ala607Gly
  • NP_001395364.1:p.Ala607Gly
  • NP_001395365.1:p.Ala607Gly
  • NP_001395366.1:p.Ala607Gly
  • NP_001395367.1:p.Ala607Gly
  • NP_001395368.1:p.Ala607Gly
  • NP_001395369.1:p.Ala607Gly
  • NP_001395370.1:p.Ala607Gly
  • NP_001395371.1:p.Ala607Gly
  • NP_001395372.1:p.Ala607Gly
  • NP_001395373.1:p.Ala607Gly
  • NP_001395374.1:p.Ala606Gly
  • NP_001395375.1:p.Ala606Gly
  • NP_001395376.1:p.Ala606Gly
  • NP_001395377.1:p.Ala606Gly
  • NP_001395379.1:p.Ala606Gly
  • NP_001395380.1:p.Ala604Gly
  • NP_001395381.1:p.Ala602Gly
  • NP_001395382.1:p.Ala602Gly
  • NP_001395383.1:p.Ala602Gly
  • NP_001395384.1:p.Ala602Gly
  • NP_001395385.1:p.Ala602Gly
  • NP_001395386.1:p.Ala602Gly
  • NP_001395387.1:p.Ala601Gly
  • NP_001395388.1:p.Ala601Gly
  • NP_001395389.1:p.Ala601Gly
  • NP_001395390.1:p.Ala601Gly
  • NP_001395391.1:p.Ala601Gly
  • NP_001395392.1:p.Ala601Gly
  • NP_001395393.1:p.Ala601Gly
  • NP_001395394.1:p.Ala601Gly
  • NP_001395395.1:p.Ala601Gly
  • NP_001395396.1:p.Ala601Gly
  • NP_001395397.1:p.Ala600Gly
  • NP_001395398.1:p.Ala600Gly
  • NP_001395399.1:p.Ala600Gly
  • NP_001395401.1:p.Ala648Gly
  • NP_001395402.1:p.Ala647Gly
  • NP_001395403.1:p.Ala582Gly
  • NP_001395404.1:p.Ala581Gly
  • NP_001395405.1:p.Ala581Gly
  • NP_001395407.1:p.Ala579Gly
  • NP_001395408.1:p.Ala579Gly
  • NP_001395409.1:p.Ala579Gly
  • NP_001395410.1:p.Ala578Gly
  • NP_001395411.1:p.Ala578Gly
  • NP_001395412.1:p.Ala578Gly
  • NP_001395413.1:p.Ala578Gly
  • NP_001395414.1:p.Ala578Gly
  • NP_001395418.1:p.Ala578Gly
  • NP_001395419.1:p.Ala578Gly
  • NP_001395420.1:p.Ala578Gly
  • NP_001395421.1:p.Ala577Gly
  • NP_001395422.1:p.Ala577Gly
  • NP_001395423.1:p.Ala569Gly
  • NP_001395424.1:p.Ala567Gly
  • NP_001395425.1:p.Ala561Gly
  • NP_001395426.1:p.Ala561Gly
  • NP_001395427.1:p.Ala561Gly
  • NP_001395428.1:p.Ala561Gly
  • NP_001395429.1:p.Ala561Gly
  • NP_001395430.1:p.Ala561Gly
  • NP_001395431.1:p.Ala560Gly
  • NP_001395432.1:p.Ala560Gly
  • NP_001395433.1:p.Ala560Gly
  • NP_001395434.1:p.Ala559Gly
  • NP_001395435.1:p.Ala540Gly
  • NP_001395436.1:p.Ala539Gly
  • NP_001395437.1:p.Ala536Gly
  • NP_001395438.1:p.Ala535Gly
  • NP_001395439.1:p.Ala522Gly
  • NP_001395440.1:p.Ala521Gly
  • NP_001395441.1:p.Ala481Gly
  • NP_001395442.1:p.Ala472Gly
  • NP_001395443.1:p.Ala340Gly
  • NP_009225.1:p.Ala1752Gly
  • NP_009225.1:p.Ala1752Gly
  • NP_009228.2:p.Ala1705Gly
  • NP_009229.2:p.Ala648Gly
  • NP_009229.2:p.Ala648Gly
  • NP_009230.2:p.Ala648Gly
  • NP_009231.2:p.Ala1773Gly
  • NP_009235.2:p.Ala648Gly
  • LRG_292t1:c.5255C>G
  • LRG_292:g.160910C>G
  • LRG_292p1:p.Ala1752Gly
  • NC_000017.10:g.41209091G>C
  • NM_007294.3:c.5255C>G
  • NM_007298.3:c.1943C>G
  • NR_027676.2:n.5432C>G
Protein change:
A1455G
Links:
dbSNP: rs80357028
NCBI 1000 Genomes Browser:
rs80357028
Molecular consequence:
  • NM_001407571.1:c.5042C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407581.1:c.5321C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407582.1:c.5321C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407583.1:c.5318C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407585.1:c.5318C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407587.1:c.5318C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407590.1:c.5315C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407591.1:c.5315C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407593.1:c.5255C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407594.1:c.5255C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407596.1:c.5255C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407597.1:c.5255C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407598.1:c.5255C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407602.1:c.5255C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407603.1:c.5255C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407605.1:c.5255C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407610.1:c.5252C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407611.1:c.5252C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407612.1:c.5252C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407613.1:c.5252C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407614.1:c.5252C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407615.1:c.5252C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407616.1:c.5252C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407617.1:c.5252C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407618.1:c.5252C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407619.1:c.5252C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407620.1:c.5252C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407621.1:c.5252C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407622.1:c.5252C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407623.1:c.5252C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407624.1:c.5252C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407625.1:c.5252C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407626.1:c.5252C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407627.1:c.5249C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407628.1:c.5249C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407629.1:c.5249C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407630.1:c.5249C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407631.1:c.5249C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407632.1:c.5249C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407633.1:c.5249C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407634.1:c.5249C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407635.1:c.5249C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407636.1:c.5249C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407637.1:c.5249C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407638.1:c.5249C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407639.1:c.5249C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407640.1:c.5249C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407641.1:c.5249C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407642.1:c.5249C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407644.1:c.5246C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407645.1:c.5246C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407646.1:c.5243C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407647.1:c.5240C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407648.1:c.5198C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407649.1:c.5195C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407652.1:c.5177C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407653.1:c.5177C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407654.1:c.5177C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407655.1:c.5177C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407656.1:c.5174C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407657.1:c.5174C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407658.1:c.5174C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407659.1:c.5171C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407660.1:c.5171C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407661.1:c.5171C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407662.1:c.5171C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407663.1:c.5171C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407664.1:c.5132C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407665.1:c.5132C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407666.1:c.5132C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407667.1:c.5132C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407668.1:c.5132C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407669.1:c.5132C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407670.1:c.5129C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407671.1:c.5129C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407672.1:c.5129C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407673.1:c.5129C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407674.1:c.5129C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407675.1:c.5129C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407676.1:c.5129C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407677.1:c.5129C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407678.1:c.5129C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407679.1:c.5129C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407680.1:c.5129C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407681.1:c.5126C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407682.1:c.5126C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407683.1:c.5126C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407684.1:c.5255C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407685.1:c.5126C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407686.1:c.5126C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407687.1:c.5126C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407688.1:c.5126C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407689.1:c.5126C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407690.1:c.5123C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407691.1:c.5123C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407692.1:c.5114C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407694.1:c.5114C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407695.1:c.5114C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407696.1:c.5114C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407697.1:c.5114C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407698.1:c.5114C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407724.1:c.5114C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407725.1:c.5114C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407726.1:c.5114C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407727.1:c.5114C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407728.1:c.5114C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407729.1:c.5114C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407730.1:c.5114C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407731.1:c.5114C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407732.1:c.5111C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407733.1:c.5111C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407734.1:c.5111C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407735.1:c.5111C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407736.1:c.5111C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407737.1:c.5111C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407738.1:c.5111C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407739.1:c.5111C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407740.1:c.5111C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407741.1:c.5111C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407742.1:c.5111C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407743.1:c.5111C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407744.1:c.5111C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407745.1:c.5111C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407746.1:c.5111C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407747.1:c.5111C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407748.1:c.5111C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407749.1:c.5111C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407750.1:c.5111C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407751.1:c.5111C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407752.1:c.5111C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407838.1:c.5108C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407839.1:c.5108C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407841.1:c.5108C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407842.1:c.5108C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407843.1:c.5108C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407844.1:c.5108C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407845.1:c.5108C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407846.1:c.5108C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407847.1:c.5108C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407848.1:c.5108C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407849.1:c.5108C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407850.1:c.5108C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407851.1:c.5108C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407852.1:c.5108C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407853.1:c.5108C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407854.1:c.5255C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407858.1:c.5252C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407859.1:c.5252C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407860.1:c.5252C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407861.1:c.5249C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407862.1:c.5054C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407863.1:c.5051C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407874.1:c.5048C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407875.1:c.5048C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407879.1:c.5045C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407881.1:c.5045C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407882.1:c.5045C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407884.1:c.5045C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407885.1:c.5045C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407886.1:c.5045C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407887.1:c.5045C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407889.1:c.5045C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407894.1:c.5042C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407895.1:c.5042C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407896.1:c.5042C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407897.1:c.5042C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407898.1:c.5042C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407899.1:c.5042C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407900.1:c.5042C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407902.1:c.5042C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407904.1:c.5042C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407906.1:c.5042C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407907.1:c.5042C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407908.1:c.5042C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407909.1:c.5042C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407910.1:c.5042C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407915.1:c.5039C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407916.1:c.5039C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407917.1:c.5039C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407918.1:c.5039C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407919.1:c.5132C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407920.1:c.4991C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407921.1:c.4991C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407922.1:c.4991C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407923.1:c.4991C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407924.1:c.4991C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407925.1:c.4991C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407926.1:c.4991C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407927.1:c.4988C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407928.1:c.4988C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407929.1:c.4988C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407930.1:c.4988C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407931.1:c.4988C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407932.1:c.4988C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407933.1:c.4988C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407934.1:c.4985C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407935.1:c.4985C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407936.1:c.4985C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407937.1:c.5132C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407938.1:c.5132C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407939.1:c.5129C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407940.1:c.5129C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407941.1:c.5126C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407942.1:c.5114C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407943.1:c.5111C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407944.1:c.5111C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407945.1:c.5111C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407946.1:c.4922C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407947.1:c.4922C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407948.1:c.4922C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407949.1:c.4922C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407950.1:c.4919C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407951.1:c.4919C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407952.1:c.4919C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407953.1:c.4919C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407954.1:c.4919C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407955.1:c.4919C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407956.1:c.4916C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407957.1:c.4916C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407958.1:c.4916C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407959.1:c.4874C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407960.1:c.4871C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407962.1:c.4871C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407963.1:c.4868C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407964.1:c.4793C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407965.1:c.4748C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407966.1:c.4367C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407967.1:c.4364C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407968.1:c.2651C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407969.1:c.2648C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407970.1:c.2012C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407971.1:c.2012C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407972.1:c.2009C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407973.1:c.1946C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407974.1:c.1946C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407975.1:c.1946C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407976.1:c.1946C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407977.1:c.1946C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407978.1:c.1946C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407979.1:c.1943C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407980.1:c.1943C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407981.1:c.1943C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407982.1:c.1943C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407983.1:c.1943C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407984.1:c.1943C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407985.1:c.1943C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407986.1:c.1943C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407990.1:c.1943C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407991.1:c.1943C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407992.1:c.1943C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407993.1:c.1943C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408392.1:c.1940C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408396.1:c.1940C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408397.1:c.1940C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408398.1:c.1940C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408399.1:c.1940C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408400.1:c.1940C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408401.1:c.1940C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408402.1:c.1940C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408403.1:c.1940C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408404.1:c.1940C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408406.1:c.1937C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408407.1:c.1937C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408408.1:c.1937C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408409.1:c.1934C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408410.1:c.1871C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408411.1:c.1868C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408412.1:c.1865C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408413.1:c.1865C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408414.1:c.1865C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408415.1:c.1865C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408416.1:c.1865C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408418.1:c.1829C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408419.1:c.1829C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408420.1:c.1829C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408421.1:c.1826C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408422.1:c.1826C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408423.1:c.1826C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408424.1:c.1826C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408425.1:c.1823C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408426.1:c.1823C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408427.1:c.1823C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408428.1:c.1823C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408429.1:c.1823C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408430.1:c.1823C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408431.1:c.1823C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408432.1:c.1820C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408433.1:c.1820C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408434.1:c.1820C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408435.1:c.1820C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408436.1:c.1820C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408437.1:c.1820C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408438.1:c.1820C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408439.1:c.1820C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408440.1:c.1820C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408441.1:c.1820C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408442.1:c.1820C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408443.1:c.1820C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408444.1:c.1820C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408445.1:c.1817C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408446.1:c.1817C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408447.1:c.1817C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408448.1:c.1817C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408450.1:c.1817C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408451.1:c.1811C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408452.1:c.1805C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408453.1:c.1805C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408454.1:c.1805C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408455.1:c.1805C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408456.1:c.1805C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408457.1:c.1805C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408458.1:c.1802C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408459.1:c.1802C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408460.1:c.1802C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408461.1:c.1802C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408462.1:c.1802C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408463.1:c.1802C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408464.1:c.1802C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408465.1:c.1802C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408466.1:c.1802C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408467.1:c.1802C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408468.1:c.1799C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408469.1:c.1799C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408470.1:c.1799C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408472.1:c.1943C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408473.1:c.1940C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408474.1:c.1745C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408475.1:c.1742C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408476.1:c.1742C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408478.1:c.1736C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408479.1:c.1736C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408480.1:c.1736C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408481.1:c.1733C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408482.1:c.1733C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408483.1:c.1733C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408484.1:c.1733C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408485.1:c.1733C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408489.1:c.1733C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408490.1:c.1733C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408491.1:c.1733C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408492.1:c.1730C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408493.1:c.1730C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408494.1:c.1706C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408495.1:c.1700C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408496.1:c.1682C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408497.1:c.1682C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408498.1:c.1682C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408499.1:c.1682C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408500.1:c.1682C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408501.1:c.1682C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408502.1:c.1679C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408503.1:c.1679C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408504.1:c.1679C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408505.1:c.1676C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408506.1:c.1619C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408507.1:c.1616C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408508.1:c.1607C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408509.1:c.1604C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408510.1:c.1565C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408511.1:c.1562C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408512.1:c.1442C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408513.1:c.1415C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408514.1:c.1019C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007294.4:c.5255C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007297.4:c.5114C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007298.4:c.1943C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007299.4:c.1943C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007300.4:c.5318C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007304.2:c.1943C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NR_027676.2:n.5432C>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
Functional consequence:
functionally_normal [Sequence Ontology: SO:0002219] - Comment(s)

Condition(s)

Name:
Hereditary breast ovarian cancer syndrome
Synonyms:
Hereditary breast and ovarian cancer syndrome; Hereditary breast and ovarian cancer; Hereditary breast and ovarian cancer syndrome (HBOC); See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0003582; MeSH: D061325; MedGen: C0677776; Orphanet: 145

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001214521Invitae
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Uncertain significance
(Jan 9, 2023) 		germlineclinical testing

PubMed (4)
[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

Accurate classification of BRCA1 variants with saturation genome editing.

Findlay GM, Daza RM, Martin B, Zhang MD, Leith AP, Gasperini M, Janizek JD, Huang X, Starita LM, Shendure J.

Nature. 2018 Oct;562(7726):217-222. doi: 10.1038/s41586-018-0461-z. Epub 2018 Sep 12.

PubMed [citation]
PMID:
30209399
PMCID:
PMC6181777

Functional analysis of BRCA1 missense variants of uncertain significance in Japanese breast cancer families.

Kawaku S, Sato R, Song H, Bando Y, Arinami T, Noguchi E.

J Hum Genet. 2013 Sep;58(9):618-21. doi: 10.1038/jhg.2013.71. Epub 2013 Jul 11.

PubMed [citation]
PMID:
23842040
See all PubMed Citations (4)

Details of each submission

From Invitae, SCV001214521.5

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

Description

In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. This variant disrupts the p.Ala1752 amino acid residue in BRCA1. Other variant(s) that disrupt this residue have been determined to be pathogenic (Invitae). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. Experimental studies have shown that this missense change does not substantially affect BRCA1 function (PMID: 23842040, 30209399). Advanced modeling performed at Invitae incorporating data from internal and/or published experimental studies (PMID: 30209399) indicates that this missense variant is not expected to disrupt BRCA1 function. ClinVar contains an entry for this variant (Variation ID: 482908). This missense change has been observed in individual(s) with breast cancer (PMID: 23842040, 30287823). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces alanine, which is neutral and non-polar, with glycine, which is neutral and non-polar, at codon 1752 of the BRCA1 protein (p.Ala1752Gly).

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

Last Updated: May 1, 2024