NM_007294.4(BRCA1):c.5072C>G (p.Thr1691Arg) AND Familial cancer of breast

Germline classification:: not provided (1 submission)
Review status:: no classification provided

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:: RCV000577017.2

Allele description [Variation Report for NM_007294.4(BRCA1):c.5072C>G (p.Thr1691Arg)]

NM_007294.4(BRCA1):c.5072C>G (p.Thr1691Arg)

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.5072C>G (p.Thr1691Arg)

HGVS:

NC_000017.11:g.43067610G>C
NG_005905.2:g.150374C>G
NM_001407571.1:c.4859C>G
NM_001407581.1:c.5138C>G
NM_001407582.1:c.5138C>G
NM_001407583.1:c.5135C>G
NM_001407585.1:c.5135C>G
NM_001407587.1:c.5135C>G
NM_001407590.1:c.5132C>G
NM_001407591.1:c.5132C>G
NM_001407593.1:c.5072C>G
NM_001407594.1:c.5072C>G
NM_001407596.1:c.5072C>G
NM_001407597.1:c.5072C>G
NM_001407598.1:c.5072C>G
NM_001407602.1:c.5072C>G
NM_001407603.1:c.5072C>G
NM_001407605.1:c.5072C>G
NM_001407610.1:c.5069C>G
NM_001407611.1:c.5069C>G
NM_001407612.1:c.5069C>G
NM_001407613.1:c.5069C>G
NM_001407614.1:c.5069C>G
NM_001407615.1:c.5069C>G
NM_001407616.1:c.5069C>G
NM_001407617.1:c.5069C>G
NM_001407618.1:c.5069C>G
NM_001407619.1:c.5069C>G
NM_001407620.1:c.5069C>G
NM_001407621.1:c.5069C>G
NM_001407622.1:c.5069C>G
NM_001407623.1:c.5069C>G
NM_001407624.1:c.5069C>G
NM_001407625.1:c.5069C>G
NM_001407626.1:c.5069C>G
NM_001407627.1:c.5066C>G
NM_001407628.1:c.5066C>G
NM_001407629.1:c.5066C>G
NM_001407630.1:c.5066C>G
NM_001407631.1:c.5066C>G
NM_001407632.1:c.5066C>G
NM_001407633.1:c.5066C>G
NM_001407634.1:c.5066C>G
NM_001407635.1:c.5066C>G
NM_001407636.1:c.5066C>G
NM_001407637.1:c.5066C>G
NM_001407638.1:c.5066C>G
NM_001407639.1:c.5066C>G
NM_001407640.1:c.5066C>G
NM_001407641.1:c.5066C>G
NM_001407642.1:c.5066C>G
NM_001407644.1:c.5063C>G
NM_001407645.1:c.5063C>G
NM_001407646.1:c.5060C>G
NM_001407647.1:c.5057C>G
NM_001407648.1:c.5015C>G
NM_001407649.1:c.5012C>G
NM_001407652.1:c.5072C>G
NM_001407653.1:c.4994C>G
NM_001407654.1:c.4994C>G
NM_001407655.1:c.4994C>G
NM_001407656.1:c.4991C>G
NM_001407657.1:c.4991C>G
NM_001407658.1:c.4991C>G
NM_001407659.1:c.4988C>G
NM_001407660.1:c.4988C>G
NM_001407661.1:c.4988C>G
NM_001407662.1:c.4988C>G
NM_001407663.1:c.4988C>G
NM_001407664.1:c.4949C>G
NM_001407665.1:c.4949C>G
NM_001407666.1:c.4949C>G
NM_001407667.1:c.4949C>G
NM_001407668.1:c.4949C>G
NM_001407669.1:c.4949C>G
NM_001407670.1:c.4946C>G
NM_001407671.1:c.4946C>G
NM_001407672.1:c.4946C>G
NM_001407673.1:c.4946C>G
NM_001407674.1:c.4946C>G
NM_001407675.1:c.4946C>G
NM_001407676.1:c.4946C>G
NM_001407677.1:c.4946C>G
NM_001407678.1:c.4946C>G
NM_001407679.1:c.4946C>G
NM_001407680.1:c.4946C>G
NM_001407681.1:c.4943C>G
NM_001407682.1:c.4943C>G
NM_001407683.1:c.4943C>G
NM_001407684.1:c.5072C>G
NM_001407685.1:c.4943C>G
NM_001407686.1:c.4943C>G
NM_001407687.1:c.4943C>G
NM_001407688.1:c.4943C>G
NM_001407689.1:c.4943C>G
NM_001407690.1:c.4940C>G
NM_001407691.1:c.4940C>G
NM_001407692.1:c.4931C>G
NM_001407694.1:c.4931C>G
NM_001407695.1:c.4931C>G
NM_001407696.1:c.4931C>G
NM_001407697.1:c.4931C>G
NM_001407698.1:c.4931C>G
NM_001407724.1:c.4931C>G
NM_001407725.1:c.4931C>G
NM_001407726.1:c.4931C>G
NM_001407727.1:c.4931C>G
NM_001407728.1:c.4931C>G
NM_001407729.1:c.4931C>G
NM_001407730.1:c.4931C>G
NM_001407731.1:c.4931C>G
NM_001407732.1:c.4928C>G
NM_001407733.1:c.4928C>G
NM_001407734.1:c.4928C>G
NM_001407735.1:c.4928C>G
NM_001407736.1:c.4928C>G
NM_001407737.1:c.4928C>G
NM_001407738.1:c.4928C>G
NM_001407739.1:c.4928C>G
NM_001407740.1:c.4928C>G
NM_001407741.1:c.4928C>G
NM_001407742.1:c.4928C>G
NM_001407743.1:c.4928C>G
NM_001407744.1:c.4928C>G
NM_001407745.1:c.4928C>G
NM_001407746.1:c.4928C>G
NM_001407747.1:c.4928C>G
NM_001407748.1:c.4928C>G
NM_001407749.1:c.4928C>G
NM_001407750.1:c.4928C>G
NM_001407751.1:c.4928C>G
NM_001407752.1:c.4928C>G
NM_001407838.1:c.4925C>G
NM_001407839.1:c.4925C>G
NM_001407841.1:c.4925C>G
NM_001407842.1:c.4925C>G
NM_001407843.1:c.4925C>G
NM_001407844.1:c.4925C>G
NM_001407845.1:c.4925C>G
NM_001407846.1:c.4925C>G
NM_001407847.1:c.4925C>G
NM_001407848.1:c.4925C>G
NM_001407849.1:c.4925C>G
NM_001407850.1:c.4925C>G
NM_001407851.1:c.4925C>G
NM_001407852.1:c.4925C>G
NM_001407853.1:c.4925C>G
NM_001407854.1:c.5072C>G
NM_001407858.1:c.5069C>G
NM_001407859.1:c.5069C>G
NM_001407860.1:c.5069C>G
NM_001407861.1:c.5066C>G
NM_001407862.1:c.4871C>G
NM_001407863.1:c.4946C>G
NM_001407874.1:c.4865C>G
NM_001407875.1:c.4865C>G
NM_001407879.1:c.4862C>G
NM_001407881.1:c.4862C>G
NM_001407882.1:c.4862C>G
NM_001407884.1:c.4862C>G
NM_001407885.1:c.4862C>G
NM_001407886.1:c.4862C>G
NM_001407887.1:c.4862C>G
NM_001407889.1:c.4862C>G
NM_001407894.1:c.4859C>G
NM_001407895.1:c.4859C>G
NM_001407896.1:c.4859C>G
NM_001407897.1:c.4859C>G
NM_001407898.1:c.4859C>G
NM_001407899.1:c.4859C>G
NM_001407900.1:c.4859C>G
NM_001407902.1:c.4859C>G
NM_001407904.1:c.4859C>G
NM_001407906.1:c.4859C>G
NM_001407907.1:c.4859C>G
NM_001407908.1:c.4859C>G
NM_001407909.1:c.4859C>G
NM_001407910.1:c.4859C>G
NM_001407915.1:c.4856C>G
NM_001407916.1:c.4856C>G
NM_001407917.1:c.4856C>G
NM_001407918.1:c.4856C>G
NM_001407919.1:c.4949C>G
NM_001407920.1:c.4808C>G
NM_001407921.1:c.4808C>G
NM_001407922.1:c.4808C>G
NM_001407923.1:c.4808C>G
NM_001407924.1:c.4808C>G
NM_001407925.1:c.4808C>G
NM_001407926.1:c.4808C>G
NM_001407927.1:c.4805C>G
NM_001407928.1:c.4805C>G
NM_001407929.1:c.4805C>G
NM_001407930.1:c.4805C>G
NM_001407931.1:c.4805C>G
NM_001407932.1:c.4805C>G
NM_001407933.1:c.4805C>G
NM_001407934.1:c.4802C>G
NM_001407935.1:c.4802C>G
NM_001407936.1:c.4802C>G
NM_001407937.1:c.4949C>G
NM_001407938.1:c.4949C>G
NM_001407939.1:c.4946C>G
NM_001407940.1:c.4946C>G
NM_001407941.1:c.4943C>G
NM_001407942.1:c.4931C>G
NM_001407943.1:c.4928C>G
NM_001407944.1:c.4928C>G
NM_001407945.1:c.4928C>G
NM_001407946.1:c.4739C>G
NM_001407947.1:c.4739C>G
NM_001407948.1:c.4739C>G
NM_001407949.1:c.4739C>G
NM_001407950.1:c.4736C>G
NM_001407951.1:c.4736C>G
NM_001407952.1:c.4736C>G
NM_001407953.1:c.4736C>G
NM_001407954.1:c.4736C>G
NM_001407955.1:c.4736C>G
NM_001407956.1:c.4733C>G
NM_001407957.1:c.4733C>G
NM_001407958.1:c.4733C>G
NM_001407959.1:c.4691C>G
NM_001407960.1:c.4688C>G
NM_001407962.1:c.4688C>G
NM_001407963.1:c.4685C>G
NM_001407964.1:c.4610C>G
NM_001407965.1:c.4565C>G
NM_001407966.1:c.4184C>G
NM_001407967.1:c.4181C>G
NM_001407968.1:c.2468C>G
NM_001407969.1:c.2465C>G
NM_001407970.1:c.1829C>G
NM_001407971.1:c.1829C>G
NM_001407972.1:c.1826C>G
NM_001407973.1:c.1763C>G
NM_001407974.1:c.1763C>G
NM_001407975.1:c.1763C>G
NM_001407976.1:c.1763C>G
NM_001407977.1:c.1763C>G
NM_001407978.1:c.1763C>G
NM_001407979.1:c.1760C>G
NM_001407980.1:c.1760C>G
NM_001407981.1:c.1760C>G
NM_001407982.1:c.1760C>G
NM_001407983.1:c.1760C>G
NM_001407984.1:c.1760C>G
NM_001407985.1:c.1760C>G
NM_001407986.1:c.1760C>G
NM_001407990.1:c.1760C>G
NM_001407991.1:c.1760C>G
NM_001407992.1:c.1760C>G
NM_001407993.1:c.1760C>G
NM_001408392.1:c.1757C>G
NM_001408396.1:c.1757C>G
NM_001408397.1:c.1757C>G
NM_001408398.1:c.1757C>G
NM_001408399.1:c.1757C>G
NM_001408400.1:c.1757C>G
NM_001408401.1:c.1757C>G
NM_001408402.1:c.1757C>G
NM_001408403.1:c.1757C>G
NM_001408404.1:c.1757C>G
NM_001408406.1:c.1754C>G
NM_001408407.1:c.1754C>G
NM_001408408.1:c.1754C>G
NM_001408409.1:c.1751C>G
NM_001408410.1:c.1688C>G
NM_001408411.1:c.1685C>G
NM_001408412.1:c.1682C>G
NM_001408413.1:c.1682C>G
NM_001408414.1:c.1682C>G
NM_001408415.1:c.1682C>G
NM_001408416.1:c.1682C>G
NM_001408418.1:c.1646C>G
NM_001408419.1:c.1646C>G
NM_001408420.1:c.1646C>G
NM_001408421.1:c.1643C>G
NM_001408422.1:c.1643C>G
NM_001408423.1:c.1643C>G
NM_001408424.1:c.1643C>G
NM_001408425.1:c.1640C>G
NM_001408426.1:c.1640C>G
NM_001408427.1:c.1640C>G
NM_001408428.1:c.1640C>G
NM_001408429.1:c.1640C>G
NM_001408430.1:c.1640C>G
NM_001408431.1:c.1640C>G
NM_001408432.1:c.1637C>G
NM_001408433.1:c.1637C>G
NM_001408434.1:c.1637C>G
NM_001408435.1:c.1637C>G
NM_001408436.1:c.1637C>G
NM_001408437.1:c.1637C>G
NM_001408438.1:c.1637C>G
NM_001408439.1:c.1637C>G
NM_001408440.1:c.1637C>G
NM_001408441.1:c.1637C>G
NM_001408442.1:c.1637C>G
NM_001408443.1:c.1637C>G
NM_001408444.1:c.1637C>G
NM_001408445.1:c.1634C>G
NM_001408446.1:c.1634C>G
NM_001408447.1:c.1634C>G
NM_001408448.1:c.1634C>G
NM_001408450.1:c.1634C>G
NM_001408451.1:c.1628C>G
NM_001408452.1:c.1622C>G
NM_001408453.1:c.1622C>G
NM_001408454.1:c.1622C>G
NM_001408455.1:c.1622C>G
NM_001408456.1:c.1622C>G
NM_001408457.1:c.1622C>G
NM_001408458.1:c.1619C>G
NM_001408459.1:c.1619C>G
NM_001408460.1:c.1619C>G
NM_001408461.1:c.1619C>G
NM_001408462.1:c.1619C>G
NM_001408463.1:c.1619C>G
NM_001408464.1:c.1619C>G
NM_001408465.1:c.1619C>G
NM_001408466.1:c.1619C>G
NM_001408467.1:c.1619C>G
NM_001408468.1:c.1616C>G
NM_001408469.1:c.1616C>G
NM_001408470.1:c.1616C>G
NM_001408472.1:c.1760C>G
NM_001408473.1:c.1757C>G
NM_001408474.1:c.1562C>G
NM_001408475.1:c.1559C>G
NM_001408476.1:c.1559C>G
NM_001408478.1:c.1553C>G
NM_001408479.1:c.1553C>G
NM_001408480.1:c.1553C>G
NM_001408481.1:c.1550C>G
NM_001408482.1:c.1550C>G
NM_001408483.1:c.1550C>G
NM_001408484.1:c.1550C>G
NM_001408485.1:c.1550C>G
NM_001408489.1:c.1550C>G
NM_001408490.1:c.1550C>G
NM_001408491.1:c.1550C>G
NM_001408492.1:c.1547C>G
NM_001408493.1:c.1547C>G
NM_001408494.1:c.1523C>G
NM_001408495.1:c.1517C>G
NM_001408496.1:c.1499C>G
NM_001408497.1:c.1499C>G
NM_001408498.1:c.1499C>G
NM_001408499.1:c.1499C>G
NM_001408500.1:c.1499C>G
NM_001408501.1:c.1499C>G
NM_001408502.1:c.1496C>G
NM_001408503.1:c.1496C>G
NM_001408504.1:c.1496C>G
NM_001408505.1:c.1493C>G
NM_001408506.1:c.1436C>G
NM_001408507.1:c.1433C>G
NM_001408508.1:c.1424C>G
NM_001408509.1:c.1421C>G
NM_001408510.1:c.1382C>G
NM_001408511.1:c.1379C>G
NM_001408512.1:c.1259C>G
NM_001408513.1:c.1232C>G
NM_007294.4:c.5072C>GMANE SELECT
NM_007297.4:c.4931C>G
NM_007298.4:c.1760C>G
NM_007299.4:c.1760C>G
NM_007300.4:c.5135C>G
NM_007304.2:c.1760C>G
NP_001394500.1:p.Thr1620Arg
NP_001394510.1:p.Thr1713Arg
NP_001394511.1:p.Thr1713Arg
NP_001394512.1:p.Thr1712Arg
NP_001394514.1:p.Thr1712Arg
NP_001394516.1:p.Thr1712Arg
NP_001394519.1:p.Thr1711Arg
NP_001394520.1:p.Thr1711Arg
NP_001394522.1:p.Thr1691Arg
NP_001394523.1:p.Thr1691Arg
NP_001394525.1:p.Thr1691Arg
NP_001394526.1:p.Thr1691Arg
NP_001394527.1:p.Thr1691Arg
NP_001394531.1:p.Thr1691Arg
NP_001394532.1:p.Thr1691Arg
NP_001394534.1:p.Thr1691Arg
NP_001394539.1:p.Thr1690Arg
NP_001394540.1:p.Thr1690Arg
NP_001394541.1:p.Thr1690Arg
NP_001394542.1:p.Thr1690Arg
NP_001394543.1:p.Thr1690Arg
NP_001394544.1:p.Thr1690Arg
NP_001394545.1:p.Thr1690Arg
NP_001394546.1:p.Thr1690Arg
NP_001394547.1:p.Thr1690Arg
NP_001394548.1:p.Thr1690Arg
NP_001394549.1:p.Thr1690Arg
NP_001394550.1:p.Thr1690Arg
NP_001394551.1:p.Thr1690Arg
NP_001394552.1:p.Thr1690Arg
NP_001394553.1:p.Thr1690Arg
NP_001394554.1:p.Thr1690Arg
NP_001394555.1:p.Thr1690Arg
NP_001394556.1:p.Thr1689Arg
NP_001394557.1:p.Thr1689Arg
NP_001394558.1:p.Thr1689Arg
NP_001394559.1:p.Thr1689Arg
NP_001394560.1:p.Thr1689Arg
NP_001394561.1:p.Thr1689Arg
NP_001394562.1:p.Thr1689Arg
NP_001394563.1:p.Thr1689Arg
NP_001394564.1:p.Thr1689Arg
NP_001394565.1:p.Thr1689Arg
NP_001394566.1:p.Thr1689Arg
NP_001394567.1:p.Thr1689Arg
NP_001394568.1:p.Thr1689Arg
NP_001394569.1:p.Thr1689Arg
NP_001394570.1:p.Thr1689Arg
NP_001394571.1:p.Thr1689Arg
NP_001394573.1:p.Thr1688Arg
NP_001394574.1:p.Thr1688Arg
NP_001394575.1:p.Thr1687Arg
NP_001394576.1:p.Thr1686Arg
NP_001394577.1:p.Thr1672Arg
NP_001394578.1:p.Thr1671Arg
NP_001394581.1:p.Thr1691Arg
NP_001394582.1:p.Thr1665Arg
NP_001394583.1:p.Thr1665Arg
NP_001394584.1:p.Thr1665Arg
NP_001394585.1:p.Thr1664Arg
NP_001394586.1:p.Thr1664Arg
NP_001394587.1:p.Thr1664Arg
NP_001394588.1:p.Thr1663Arg
NP_001394589.1:p.Thr1663Arg
NP_001394590.1:p.Thr1663Arg
NP_001394591.1:p.Thr1663Arg
NP_001394592.1:p.Thr1663Arg
NP_001394593.1:p.Thr1650Arg
NP_001394594.1:p.Thr1650Arg
NP_001394595.1:p.Thr1650Arg
NP_001394596.1:p.Thr1650Arg
NP_001394597.1:p.Thr1650Arg
NP_001394598.1:p.Thr1650Arg
NP_001394599.1:p.Thr1649Arg
NP_001394600.1:p.Thr1649Arg
NP_001394601.1:p.Thr1649Arg
NP_001394602.1:p.Thr1649Arg
NP_001394603.1:p.Thr1649Arg
NP_001394604.1:p.Thr1649Arg
NP_001394605.1:p.Thr1649Arg
NP_001394606.1:p.Thr1649Arg
NP_001394607.1:p.Thr1649Arg
NP_001394608.1:p.Thr1649Arg
NP_001394609.1:p.Thr1649Arg
NP_001394610.1:p.Thr1648Arg
NP_001394611.1:p.Thr1648Arg
NP_001394612.1:p.Thr1648Arg
NP_001394613.1:p.Thr1691Arg
NP_001394614.1:p.Thr1648Arg
NP_001394615.1:p.Thr1648Arg
NP_001394616.1:p.Thr1648Arg
NP_001394617.1:p.Thr1648Arg
NP_001394618.1:p.Thr1648Arg
NP_001394619.1:p.Thr1647Arg
NP_001394620.1:p.Thr1647Arg
NP_001394621.1:p.Thr1644Arg
NP_001394623.1:p.Thr1644Arg
NP_001394624.1:p.Thr1644Arg
NP_001394625.1:p.Thr1644Arg
NP_001394626.1:p.Thr1644Arg
NP_001394627.1:p.Thr1644Arg
NP_001394653.1:p.Thr1644Arg
NP_001394654.1:p.Thr1644Arg
NP_001394655.1:p.Thr1644Arg
NP_001394656.1:p.Thr1644Arg
NP_001394657.1:p.Thr1644Arg
NP_001394658.1:p.Thr1644Arg
NP_001394659.1:p.Thr1644Arg
NP_001394660.1:p.Thr1644Arg
NP_001394661.1:p.Thr1643Arg
NP_001394662.1:p.Thr1643Arg
NP_001394663.1:p.Thr1643Arg
NP_001394664.1:p.Thr1643Arg
NP_001394665.1:p.Thr1643Arg
NP_001394666.1:p.Thr1643Arg
NP_001394667.1:p.Thr1643Arg
NP_001394668.1:p.Thr1643Arg
NP_001394669.1:p.Thr1643Arg
NP_001394670.1:p.Thr1643Arg
NP_001394671.1:p.Thr1643Arg
NP_001394672.1:p.Thr1643Arg
NP_001394673.1:p.Thr1643Arg
NP_001394674.1:p.Thr1643Arg
NP_001394675.1:p.Thr1643Arg
NP_001394676.1:p.Thr1643Arg
NP_001394677.1:p.Thr1643Arg
NP_001394678.1:p.Thr1643Arg
NP_001394679.1:p.Thr1643Arg
NP_001394680.1:p.Thr1643Arg
NP_001394681.1:p.Thr1643Arg
NP_001394767.1:p.Thr1642Arg
NP_001394768.1:p.Thr1642Arg
NP_001394770.1:p.Thr1642Arg
NP_001394771.1:p.Thr1642Arg
NP_001394772.1:p.Thr1642Arg
NP_001394773.1:p.Thr1642Arg
NP_001394774.1:p.Thr1642Arg
NP_001394775.1:p.Thr1642Arg
NP_001394776.1:p.Thr1642Arg
NP_001394777.1:p.Thr1642Arg
NP_001394778.1:p.Thr1642Arg
NP_001394779.1:p.Thr1642Arg
NP_001394780.1:p.Thr1642Arg
NP_001394781.1:p.Thr1642Arg
NP_001394782.1:p.Thr1642Arg
NP_001394783.1:p.Thr1691Arg
NP_001394787.1:p.Thr1690Arg
NP_001394788.1:p.Thr1690Arg
NP_001394789.1:p.Thr1690Arg
NP_001394790.1:p.Thr1689Arg
NP_001394791.1:p.Thr1624Arg
NP_001394792.1:p.Thr1649Arg
NP_001394803.1:p.Thr1622Arg
NP_001394804.1:p.Thr1622Arg
NP_001394808.1:p.Thr1621Arg
NP_001394810.1:p.Thr1621Arg
NP_001394811.1:p.Thr1621Arg
NP_001394813.1:p.Thr1621Arg
NP_001394814.1:p.Thr1621Arg
NP_001394815.1:p.Thr1621Arg
NP_001394816.1:p.Thr1621Arg
NP_001394818.1:p.Thr1621Arg
NP_001394823.1:p.Thr1620Arg
NP_001394824.1:p.Thr1620Arg
NP_001394825.1:p.Thr1620Arg
NP_001394826.1:p.Thr1620Arg
NP_001394827.1:p.Thr1620Arg
NP_001394828.1:p.Thr1620Arg
NP_001394829.1:p.Thr1620Arg
NP_001394831.1:p.Thr1620Arg
NP_001394833.1:p.Thr1620Arg
NP_001394835.1:p.Thr1620Arg
NP_001394836.1:p.Thr1620Arg
NP_001394837.1:p.Thr1620Arg
NP_001394838.1:p.Thr1620Arg
NP_001394839.1:p.Thr1620Arg
NP_001394844.1:p.Thr1619Arg
NP_001394845.1:p.Thr1619Arg
NP_001394846.1:p.Thr1619Arg
NP_001394847.1:p.Thr1619Arg
NP_001394848.1:p.Thr1650Arg
NP_001394849.1:p.Thr1603Arg
NP_001394850.1:p.Thr1603Arg
NP_001394851.1:p.Thr1603Arg
NP_001394852.1:p.Thr1603Arg
NP_001394853.1:p.Thr1603Arg
NP_001394854.1:p.Thr1603Arg
NP_001394855.1:p.Thr1603Arg
NP_001394856.1:p.Thr1602Arg
NP_001394857.1:p.Thr1602Arg
NP_001394858.1:p.Thr1602Arg
NP_001394859.1:p.Thr1602Arg
NP_001394860.1:p.Thr1602Arg
NP_001394861.1:p.Thr1602Arg
NP_001394862.1:p.Thr1602Arg
NP_001394863.1:p.Thr1601Arg
NP_001394864.1:p.Thr1601Arg
NP_001394865.1:p.Thr1601Arg
NP_001394866.1:p.Thr1650Arg
NP_001394867.1:p.Thr1650Arg
NP_001394868.1:p.Thr1649Arg
NP_001394869.1:p.Thr1649Arg
NP_001394870.1:p.Thr1648Arg
NP_001394871.1:p.Thr1644Arg
NP_001394872.1:p.Thr1643Arg
NP_001394873.1:p.Thr1643Arg
NP_001394874.1:p.Thr1643Arg
NP_001394875.1:p.Thr1580Arg
NP_001394876.1:p.Thr1580Arg
NP_001394877.1:p.Thr1580Arg
NP_001394878.1:p.Thr1580Arg
NP_001394879.1:p.Thr1579Arg
NP_001394880.1:p.Thr1579Arg
NP_001394881.1:p.Thr1579Arg
NP_001394882.1:p.Thr1579Arg
NP_001394883.1:p.Thr1579Arg
NP_001394884.1:p.Thr1579Arg
NP_001394885.1:p.Thr1578Arg
NP_001394886.1:p.Thr1578Arg
NP_001394887.1:p.Thr1578Arg
NP_001394888.1:p.Thr1564Arg
NP_001394889.1:p.Thr1563Arg
NP_001394891.1:p.Thr1563Arg
NP_001394892.1:p.Thr1562Arg
NP_001394893.1:p.Thr1537Arg
NP_001394894.1:p.Thr1522Arg
NP_001394895.1:p.Thr1395Arg
NP_001394896.1:p.Thr1394Arg
NP_001394897.1:p.Thr823Arg
NP_001394898.1:p.Thr822Arg
NP_001394899.1:p.Thr610Arg
NP_001394900.1:p.Thr610Arg
NP_001394901.1:p.Thr609Arg
NP_001394902.1:p.Thr588Arg
NP_001394903.1:p.Thr588Arg
NP_001394904.1:p.Thr588Arg
NP_001394905.1:p.Thr588Arg
NP_001394906.1:p.Thr588Arg
NP_001394907.1:p.Thr588Arg
NP_001394908.1:p.Thr587Arg
NP_001394909.1:p.Thr587Arg
NP_001394910.1:p.Thr587Arg
NP_001394911.1:p.Thr587Arg
NP_001394912.1:p.Thr587Arg
NP_001394913.1:p.Thr587Arg
NP_001394914.1:p.Thr587Arg
NP_001394915.1:p.Thr587Arg
NP_001394919.1:p.Thr587Arg
NP_001394920.1:p.Thr587Arg
NP_001394921.1:p.Thr587Arg
NP_001394922.1:p.Thr587Arg
NP_001395321.1:p.Thr586Arg
NP_001395325.1:p.Thr586Arg
NP_001395326.1:p.Thr586Arg
NP_001395327.1:p.Thr586Arg
NP_001395328.1:p.Thr586Arg
NP_001395329.1:p.Thr586Arg
NP_001395330.1:p.Thr586Arg
NP_001395331.1:p.Thr586Arg
NP_001395332.1:p.Thr586Arg
NP_001395333.1:p.Thr586Arg
NP_001395335.1:p.Thr585Arg
NP_001395336.1:p.Thr585Arg
NP_001395337.1:p.Thr585Arg
NP_001395338.1:p.Thr584Arg
NP_001395339.1:p.Thr563Arg
NP_001395340.1:p.Thr562Arg
NP_001395341.1:p.Thr561Arg
NP_001395342.1:p.Thr561Arg
NP_001395343.1:p.Thr561Arg
NP_001395344.1:p.Thr561Arg
NP_001395345.1:p.Thr561Arg
NP_001395347.1:p.Thr549Arg
NP_001395348.1:p.Thr549Arg
NP_001395349.1:p.Thr549Arg
NP_001395350.1:p.Thr548Arg
NP_001395351.1:p.Thr548Arg
NP_001395352.1:p.Thr548Arg
NP_001395353.1:p.Thr548Arg
NP_001395354.1:p.Thr547Arg
NP_001395355.1:p.Thr547Arg
NP_001395356.1:p.Thr547Arg
NP_001395357.1:p.Thr547Arg
NP_001395358.1:p.Thr547Arg
NP_001395359.1:p.Thr547Arg
NP_001395360.1:p.Thr547Arg
NP_001395361.1:p.Thr546Arg
NP_001395362.1:p.Thr546Arg
NP_001395363.1:p.Thr546Arg
NP_001395364.1:p.Thr546Arg
NP_001395365.1:p.Thr546Arg
NP_001395366.1:p.Thr546Arg
NP_001395367.1:p.Thr546Arg
NP_001395368.1:p.Thr546Arg
NP_001395369.1:p.Thr546Arg
NP_001395370.1:p.Thr546Arg
NP_001395371.1:p.Thr546Arg
NP_001395372.1:p.Thr546Arg
NP_001395373.1:p.Thr546Arg
NP_001395374.1:p.Thr545Arg
NP_001395375.1:p.Thr545Arg
NP_001395376.1:p.Thr545Arg
NP_001395377.1:p.Thr545Arg
NP_001395379.1:p.Thr545Arg
NP_001395380.1:p.Thr543Arg
NP_001395381.1:p.Thr541Arg
NP_001395382.1:p.Thr541Arg
NP_001395383.1:p.Thr541Arg
NP_001395384.1:p.Thr541Arg
NP_001395385.1:p.Thr541Arg
NP_001395386.1:p.Thr541Arg
NP_001395387.1:p.Thr540Arg
NP_001395388.1:p.Thr540Arg
NP_001395389.1:p.Thr540Arg
NP_001395390.1:p.Thr540Arg
NP_001395391.1:p.Thr540Arg
NP_001395392.1:p.Thr540Arg
NP_001395393.1:p.Thr540Arg
NP_001395394.1:p.Thr540Arg
NP_001395395.1:p.Thr540Arg
NP_001395396.1:p.Thr540Arg
NP_001395397.1:p.Thr539Arg
NP_001395398.1:p.Thr539Arg
NP_001395399.1:p.Thr539Arg
NP_001395401.1:p.Thr587Arg
NP_001395402.1:p.Thr586Arg
NP_001395403.1:p.Thr521Arg
NP_001395404.1:p.Thr520Arg
NP_001395405.1:p.Thr520Arg
NP_001395407.1:p.Thr518Arg
NP_001395408.1:p.Thr518Arg
NP_001395409.1:p.Thr518Arg
NP_001395410.1:p.Thr517Arg
NP_001395411.1:p.Thr517Arg
NP_001395412.1:p.Thr517Arg
NP_001395413.1:p.Thr517Arg
NP_001395414.1:p.Thr517Arg
NP_001395418.1:p.Thr517Arg
NP_001395419.1:p.Thr517Arg
NP_001395420.1:p.Thr517Arg
NP_001395421.1:p.Thr516Arg
NP_001395422.1:p.Thr516Arg
NP_001395423.1:p.Thr508Arg
NP_001395424.1:p.Thr506Arg
NP_001395425.1:p.Thr500Arg
NP_001395426.1:p.Thr500Arg
NP_001395427.1:p.Thr500Arg
NP_001395428.1:p.Thr500Arg
NP_001395429.1:p.Thr500Arg
NP_001395430.1:p.Thr500Arg
NP_001395431.1:p.Thr499Arg
NP_001395432.1:p.Thr499Arg
NP_001395433.1:p.Thr499Arg
NP_001395434.1:p.Thr498Arg
NP_001395435.1:p.Thr479Arg
NP_001395436.1:p.Thr478Arg
NP_001395437.1:p.Thr475Arg
NP_001395438.1:p.Thr474Arg
NP_001395439.1:p.Thr461Arg
NP_001395440.1:p.Thr460Arg
NP_001395441.1:p.Thr420Arg
NP_001395442.1:p.Thr411Arg
NP_009225.1:p.Thr1691Arg
NP_009225.1:p.Thr1691Arg
NP_009228.2:p.Thr1644Arg
NP_009229.2:p.Thr587Arg
NP_009229.2:p.Thr587Arg
NP_009230.2:p.Thr587Arg
NP_009231.2:p.Thr1712Arg
NP_009235.2:p.Thr587Arg
LRG_292t1:c.5072C>G
LRG_292:g.150374C>G
LRG_292p1:p.Thr1691Arg
NC_000017.10:g.41219627G>C
NM_007294.3:c.5072C>G
NM_007298.3:c.1760C>G
NR_027676.2:n.5249C>G

Protein change:

T1394R

Links:

dbSNP: rs80357034

NCBI 1000 Genomes Browser:

rs80357034

Molecular consequence:

NM_001407571.1:c.4859C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407581.1:c.5138C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407582.1:c.5138C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407583.1:c.5135C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407585.1:c.5135C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407587.1:c.5135C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407590.1:c.5132C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407591.1:c.5132C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407593.1:c.5072C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407594.1:c.5072C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407596.1:c.5072C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407597.1:c.5072C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407598.1:c.5072C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407602.1:c.5072C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407603.1:c.5072C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407605.1:c.5072C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407610.1:c.5069C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407611.1:c.5069C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407612.1:c.5069C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407613.1:c.5069C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407614.1:c.5069C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407615.1:c.5069C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407616.1:c.5069C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407617.1:c.5069C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407618.1:c.5069C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407619.1:c.5069C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407620.1:c.5069C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407621.1:c.5069C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407622.1:c.5069C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407623.1:c.5069C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407624.1:c.5069C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407625.1:c.5069C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407626.1:c.5069C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407627.1:c.5066C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407628.1:c.5066C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407629.1:c.5066C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407630.1:c.5066C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407631.1:c.5066C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407632.1:c.5066C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407633.1:c.5066C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407634.1:c.5066C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407635.1:c.5066C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407636.1:c.5066C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407637.1:c.5066C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407638.1:c.5066C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407639.1:c.5066C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407640.1:c.5066C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407641.1:c.5066C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407642.1:c.5066C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407644.1:c.5063C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407645.1:c.5063C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407646.1:c.5060C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407647.1:c.5057C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407648.1:c.5015C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407649.1:c.5012C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407652.1:c.5072C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407653.1:c.4994C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407654.1:c.4994C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407655.1:c.4994C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407656.1:c.4991C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407657.1:c.4991C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407658.1:c.4991C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407659.1:c.4988C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407660.1:c.4988C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407661.1:c.4988C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407662.1:c.4988C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407663.1:c.4988C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407664.1:c.4949C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407665.1:c.4949C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407666.1:c.4949C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407667.1:c.4949C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407668.1:c.4949C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407669.1:c.4949C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407670.1:c.4946C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407671.1:c.4946C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407672.1:c.4946C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407673.1:c.4946C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407674.1:c.4946C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407675.1:c.4946C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407676.1:c.4946C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407677.1:c.4946C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407678.1:c.4946C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407679.1:c.4946C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407680.1:c.4946C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407681.1:c.4943C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407682.1:c.4943C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407683.1:c.4943C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407684.1:c.5072C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407685.1:c.4943C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407686.1:c.4943C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407687.1:c.4943C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407688.1:c.4943C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407689.1:c.4943C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407690.1:c.4940C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407691.1:c.4940C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407692.1:c.4931C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407694.1:c.4931C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407695.1:c.4931C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407696.1:c.4931C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407697.1:c.4931C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407698.1:c.4931C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407724.1:c.4931C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407725.1:c.4931C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407726.1:c.4931C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407727.1:c.4931C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407728.1:c.4931C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407729.1:c.4931C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407730.1:c.4931C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407731.1:c.4931C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407732.1:c.4928C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407733.1:c.4928C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407734.1:c.4928C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407735.1:c.4928C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407736.1:c.4928C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407737.1:c.4928C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407738.1:c.4928C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407739.1:c.4928C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407740.1:c.4928C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407741.1:c.4928C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407742.1:c.4928C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407743.1:c.4928C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407744.1:c.4928C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407745.1:c.4928C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407746.1:c.4928C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407747.1:c.4928C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407748.1:c.4928C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407749.1:c.4928C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407750.1:c.4928C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407751.1:c.4928C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407752.1:c.4928C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407838.1:c.4925C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407839.1:c.4925C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407841.1:c.4925C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407842.1:c.4925C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407843.1:c.4925C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407844.1:c.4925C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407845.1:c.4925C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407846.1:c.4925C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407847.1:c.4925C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407848.1:c.4925C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407849.1:c.4925C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407850.1:c.4925C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407851.1:c.4925C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407852.1:c.4925C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407853.1:c.4925C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407854.1:c.5072C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407858.1:c.5069C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407859.1:c.5069C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407860.1:c.5069C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407861.1:c.5066C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407862.1:c.4871C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407863.1:c.4946C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407874.1:c.4865C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407875.1:c.4865C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407879.1:c.4862C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407881.1:c.4862C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407882.1:c.4862C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407884.1:c.4862C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407885.1:c.4862C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407886.1:c.4862C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407887.1:c.4862C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407889.1:c.4862C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407894.1:c.4859C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407895.1:c.4859C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407896.1:c.4859C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407897.1:c.4859C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407898.1:c.4859C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407899.1:c.4859C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407900.1:c.4859C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407902.1:c.4859C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407904.1:c.4859C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407906.1:c.4859C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407907.1:c.4859C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407908.1:c.4859C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407909.1:c.4859C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407910.1:c.4859C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407915.1:c.4856C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407916.1:c.4856C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407917.1:c.4856C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407918.1:c.4856C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407919.1:c.4949C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407920.1:c.4808C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407921.1:c.4808C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407922.1:c.4808C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407923.1:c.4808C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407924.1:c.4808C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407925.1:c.4808C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407926.1:c.4808C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407927.1:c.4805C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407928.1:c.4805C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407929.1:c.4805C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407930.1:c.4805C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407931.1:c.4805C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407932.1:c.4805C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407933.1:c.4805C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407934.1:c.4802C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407935.1:c.4802C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407936.1:c.4802C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407937.1:c.4949C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407938.1:c.4949C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407939.1:c.4946C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407940.1:c.4946C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407941.1:c.4943C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407942.1:c.4931C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407943.1:c.4928C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407944.1:c.4928C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407945.1:c.4928C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407946.1:c.4739C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407947.1:c.4739C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407948.1:c.4739C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407949.1:c.4739C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407950.1:c.4736C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407951.1:c.4736C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407952.1:c.4736C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407953.1:c.4736C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407954.1:c.4736C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407955.1:c.4736C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407956.1:c.4733C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407957.1:c.4733C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407958.1:c.4733C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407959.1:c.4691C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407960.1:c.4688C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407962.1:c.4688C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407963.1:c.4685C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407964.1:c.4610C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407965.1:c.4565C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407966.1:c.4184C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407967.1:c.4181C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407968.1:c.2468C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407969.1:c.2465C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407970.1:c.1829C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407971.1:c.1829C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407972.1:c.1826C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407973.1:c.1763C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407974.1:c.1763C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407975.1:c.1763C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407976.1:c.1763C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407977.1:c.1763C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407978.1:c.1763C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407979.1:c.1760C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407980.1:c.1760C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407981.1:c.1760C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407982.1:c.1760C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407983.1:c.1760C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407984.1:c.1760C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407985.1:c.1760C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407986.1:c.1760C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407990.1:c.1760C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407991.1:c.1760C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407992.1:c.1760C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407993.1:c.1760C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408392.1:c.1757C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408396.1:c.1757C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408397.1:c.1757C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408398.1:c.1757C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408399.1:c.1757C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408400.1:c.1757C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408401.1:c.1757C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408402.1:c.1757C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408403.1:c.1757C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408404.1:c.1757C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408406.1:c.1754C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408407.1:c.1754C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408408.1:c.1754C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408409.1:c.1751C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408410.1:c.1688C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408411.1:c.1685C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408412.1:c.1682C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408413.1:c.1682C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408414.1:c.1682C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408415.1:c.1682C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408416.1:c.1682C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408418.1:c.1646C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408419.1:c.1646C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408420.1:c.1646C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408421.1:c.1643C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408422.1:c.1643C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408423.1:c.1643C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408424.1:c.1643C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408425.1:c.1640C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408426.1:c.1640C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408427.1:c.1640C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408428.1:c.1640C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408429.1:c.1640C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408430.1:c.1640C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408431.1:c.1640C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408432.1:c.1637C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408433.1:c.1637C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408434.1:c.1637C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408435.1:c.1637C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408436.1:c.1637C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408437.1:c.1637C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408438.1:c.1637C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408439.1:c.1637C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408440.1:c.1637C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408441.1:c.1637C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408442.1:c.1637C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408443.1:c.1637C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408444.1:c.1637C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408445.1:c.1634C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408446.1:c.1634C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408447.1:c.1634C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408448.1:c.1634C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408450.1:c.1634C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408451.1:c.1628C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408452.1:c.1622C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408453.1:c.1622C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408454.1:c.1622C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408455.1:c.1622C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408456.1:c.1622C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408457.1:c.1622C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408458.1:c.1619C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408459.1:c.1619C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408460.1:c.1619C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408461.1:c.1619C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408462.1:c.1619C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408463.1:c.1619C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408464.1:c.1619C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408465.1:c.1619C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408466.1:c.1619C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408467.1:c.1619C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408468.1:c.1616C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408469.1:c.1616C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408470.1:c.1616C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408472.1:c.1760C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408473.1:c.1757C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408474.1:c.1562C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408475.1:c.1559C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408476.1:c.1559C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408478.1:c.1553C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408479.1:c.1553C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408480.1:c.1553C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408481.1:c.1550C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408482.1:c.1550C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408483.1:c.1550C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408484.1:c.1550C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408485.1:c.1550C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408489.1:c.1550C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408490.1:c.1550C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408491.1:c.1550C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408492.1:c.1547C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408493.1:c.1547C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408494.1:c.1523C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408495.1:c.1517C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408496.1:c.1499C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408497.1:c.1499C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408498.1:c.1499C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408499.1:c.1499C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408500.1:c.1499C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408501.1:c.1499C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408502.1:c.1496C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408503.1:c.1496C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408504.1:c.1496C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408505.1:c.1493C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408506.1:c.1436C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408507.1:c.1433C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408508.1:c.1424C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408509.1:c.1421C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408510.1:c.1382C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408511.1:c.1379C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408512.1:c.1259C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408513.1:c.1232C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_007294.4:c.5072C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_007297.4:c.4931C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_007298.4:c.1760C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_007299.4:c.1760C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_007300.4:c.5135C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_007304.2:c.1760C>G - missense variant - [Sequence Ontology: SO:0001583]
NR_027676.2:n.5249C>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Functional consequence:

functionally_abnormal [Sequence Ontology: SO:0002218] - Comment(s)

Condition(s)

Name:: Familial cancer of breast
Synonyms:: Breast cancer, familial; Hereditary breast cancer
Identifiers:: MONDO: MONDO:0016419; MedGen: C0346153; OMIM: 114480

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000679623	ClinVar Staff, National Center for Biotechnology Information (NCBI)	no classification provided	not provided	germline	literature only	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000679623

ClinVar Staff, National Center for Biotechnology Information (NCBI)

no classification provided

not provided

germline

literature only

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	literature only

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

Details of each submission

From ClinVar Staff, National Center for Biotechnology Information (NCBI), SCV000679623.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Sep 8, 2024

ClinVar

Relating variation to medicine