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NM_007294.4(BRCA1):c.5057A>G (p.His1686Arg) AND Breast-ovarian cancer, familial, susceptibility to, 1

Germline classification:
Pathogenic/Likely pathogenic (3 submissions)
Last evaluated:
Sep 1, 2023
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria 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:
RCV000162048.7

Allele description [Variation Report for NM_007294.4(BRCA1):c.5057A>G (p.His1686Arg)]

NM_007294.4(BRCA1):c.5057A>G (p.His1686Arg)

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.5057A>G (p.His1686Arg)
HGVS:
  • NC_000017.11:g.43067625T>C
  • NG_005905.2:g.150359A>G
  • NM_001407571.1:c.4844A>G
  • NM_001407581.1:c.5123A>G
  • NM_001407582.1:c.5123A>G
  • NM_001407583.1:c.5120A>G
  • NM_001407585.1:c.5120A>G
  • NM_001407587.1:c.5120A>G
  • NM_001407590.1:c.5117A>G
  • NM_001407591.1:c.5117A>G
  • NM_001407593.1:c.5057A>G
  • NM_001407594.1:c.5057A>G
  • NM_001407596.1:c.5057A>G
  • NM_001407597.1:c.5057A>G
  • NM_001407598.1:c.5057A>G
  • NM_001407602.1:c.5057A>G
  • NM_001407603.1:c.5057A>G
  • NM_001407605.1:c.5057A>G
  • NM_001407610.1:c.5054A>G
  • NM_001407611.1:c.5054A>G
  • NM_001407612.1:c.5054A>G
  • NM_001407613.1:c.5054A>G
  • NM_001407614.1:c.5054A>G
  • NM_001407615.1:c.5054A>G
  • NM_001407616.1:c.5054A>G
  • NM_001407617.1:c.5054A>G
  • NM_001407618.1:c.5054A>G
  • NM_001407619.1:c.5054A>G
  • NM_001407620.1:c.5054A>G
  • NM_001407621.1:c.5054A>G
  • NM_001407622.1:c.5054A>G
  • NM_001407623.1:c.5054A>G
  • NM_001407624.1:c.5054A>G
  • NM_001407625.1:c.5054A>G
  • NM_001407626.1:c.5054A>G
  • NM_001407627.1:c.5051A>G
  • NM_001407628.1:c.5051A>G
  • NM_001407629.1:c.5051A>G
  • NM_001407630.1:c.5051A>G
  • NM_001407631.1:c.5051A>G
  • NM_001407632.1:c.5051A>G
  • NM_001407633.1:c.5051A>G
  • NM_001407634.1:c.5051A>G
  • NM_001407635.1:c.5051A>G
  • NM_001407636.1:c.5051A>G
  • NM_001407637.1:c.5051A>G
  • NM_001407638.1:c.5051A>G
  • NM_001407639.1:c.5051A>G
  • NM_001407640.1:c.5051A>G
  • NM_001407641.1:c.5051A>G
  • NM_001407642.1:c.5051A>G
  • NM_001407644.1:c.5048A>G
  • NM_001407645.1:c.5048A>G
  • NM_001407646.1:c.5045A>G
  • NM_001407647.1:c.5042A>G
  • NM_001407648.1:c.5000A>G
  • NM_001407649.1:c.4997A>G
  • NM_001407652.1:c.5057A>G
  • NM_001407653.1:c.4979A>G
  • NM_001407654.1:c.4979A>G
  • NM_001407655.1:c.4979A>G
  • NM_001407656.1:c.4976A>G
  • NM_001407657.1:c.4976A>G
  • NM_001407658.1:c.4976A>G
  • NM_001407659.1:c.4973A>G
  • NM_001407660.1:c.4973A>G
  • NM_001407661.1:c.4973A>G
  • NM_001407662.1:c.4973A>G
  • NM_001407663.1:c.4973A>G
  • NM_001407664.1:c.4934A>G
  • NM_001407665.1:c.4934A>G
  • NM_001407666.1:c.4934A>G
  • NM_001407667.1:c.4934A>G
  • NM_001407668.1:c.4934A>G
  • NM_001407669.1:c.4934A>G
  • NM_001407670.1:c.4931A>G
  • NM_001407671.1:c.4931A>G
  • NM_001407672.1:c.4931A>G
  • NM_001407673.1:c.4931A>G
  • NM_001407674.1:c.4931A>G
  • NM_001407675.1:c.4931A>G
  • NM_001407676.1:c.4931A>G
  • NM_001407677.1:c.4931A>G
  • NM_001407678.1:c.4931A>G
  • NM_001407679.1:c.4931A>G
  • NM_001407680.1:c.4931A>G
  • NM_001407681.1:c.4928A>G
  • NM_001407682.1:c.4928A>G
  • NM_001407683.1:c.4928A>G
  • NM_001407684.1:c.5057A>G
  • NM_001407685.1:c.4928A>G
  • NM_001407686.1:c.4928A>G
  • NM_001407687.1:c.4928A>G
  • NM_001407688.1:c.4928A>G
  • NM_001407689.1:c.4928A>G
  • NM_001407690.1:c.4925A>G
  • NM_001407691.1:c.4925A>G
  • NM_001407692.1:c.4916A>G
  • NM_001407694.1:c.4916A>G
  • NM_001407695.1:c.4916A>G
  • NM_001407696.1:c.4916A>G
  • NM_001407697.1:c.4916A>G
  • NM_001407698.1:c.4916A>G
  • NM_001407724.1:c.4916A>G
  • NM_001407725.1:c.4916A>G
  • NM_001407726.1:c.4916A>G
  • NM_001407727.1:c.4916A>G
  • NM_001407728.1:c.4916A>G
  • NM_001407729.1:c.4916A>G
  • NM_001407730.1:c.4916A>G
  • NM_001407731.1:c.4916A>G
  • NM_001407732.1:c.4913A>G
  • NM_001407733.1:c.4913A>G
  • NM_001407734.1:c.4913A>G
  • NM_001407735.1:c.4913A>G
  • NM_001407736.1:c.4913A>G
  • NM_001407737.1:c.4913A>G
  • NM_001407738.1:c.4913A>G
  • NM_001407739.1:c.4913A>G
  • NM_001407740.1:c.4913A>G
  • NM_001407741.1:c.4913A>G
  • NM_001407742.1:c.4913A>G
  • NM_001407743.1:c.4913A>G
  • NM_001407744.1:c.4913A>G
  • NM_001407745.1:c.4913A>G
  • NM_001407746.1:c.4913A>G
  • NM_001407747.1:c.4913A>G
  • NM_001407748.1:c.4913A>G
  • NM_001407749.1:c.4913A>G
  • NM_001407750.1:c.4913A>G
  • NM_001407751.1:c.4913A>G
  • NM_001407752.1:c.4913A>G
  • NM_001407838.1:c.4910A>G
  • NM_001407839.1:c.4910A>G
  • NM_001407841.1:c.4910A>G
  • NM_001407842.1:c.4910A>G
  • NM_001407843.1:c.4910A>G
  • NM_001407844.1:c.4910A>G
  • NM_001407845.1:c.4910A>G
  • NM_001407846.1:c.4910A>G
  • NM_001407847.1:c.4910A>G
  • NM_001407848.1:c.4910A>G
  • NM_001407849.1:c.4910A>G
  • NM_001407850.1:c.4910A>G
  • NM_001407851.1:c.4910A>G
  • NM_001407852.1:c.4910A>G
  • NM_001407853.1:c.4910A>G
  • NM_001407854.1:c.5057A>G
  • NM_001407858.1:c.5054A>G
  • NM_001407859.1:c.5054A>G
  • NM_001407860.1:c.5054A>G
  • NM_001407861.1:c.5051A>G
  • NM_001407862.1:c.4856A>G
  • NM_001407863.1:c.4931A>G
  • NM_001407874.1:c.4850A>G
  • NM_001407875.1:c.4850A>G
  • NM_001407879.1:c.4847A>G
  • NM_001407881.1:c.4847A>G
  • NM_001407882.1:c.4847A>G
  • NM_001407884.1:c.4847A>G
  • NM_001407885.1:c.4847A>G
  • NM_001407886.1:c.4847A>G
  • NM_001407887.1:c.4847A>G
  • NM_001407889.1:c.4847A>G
  • NM_001407894.1:c.4844A>G
  • NM_001407895.1:c.4844A>G
  • NM_001407896.1:c.4844A>G
  • NM_001407897.1:c.4844A>G
  • NM_001407898.1:c.4844A>G
  • NM_001407899.1:c.4844A>G
  • NM_001407900.1:c.4844A>G
  • NM_001407902.1:c.4844A>G
  • NM_001407904.1:c.4844A>G
  • NM_001407906.1:c.4844A>G
  • NM_001407907.1:c.4844A>G
  • NM_001407908.1:c.4844A>G
  • NM_001407909.1:c.4844A>G
  • NM_001407910.1:c.4844A>G
  • NM_001407915.1:c.4841A>G
  • NM_001407916.1:c.4841A>G
  • NM_001407917.1:c.4841A>G
  • NM_001407918.1:c.4841A>G
  • NM_001407919.1:c.4934A>G
  • NM_001407920.1:c.4793A>G
  • NM_001407921.1:c.4793A>G
  • NM_001407922.1:c.4793A>G
  • NM_001407923.1:c.4793A>G
  • NM_001407924.1:c.4793A>G
  • NM_001407925.1:c.4793A>G
  • NM_001407926.1:c.4793A>G
  • NM_001407927.1:c.4790A>G
  • NM_001407928.1:c.4790A>G
  • NM_001407929.1:c.4790A>G
  • NM_001407930.1:c.4790A>G
  • NM_001407931.1:c.4790A>G
  • NM_001407932.1:c.4790A>G
  • NM_001407933.1:c.4790A>G
  • NM_001407934.1:c.4787A>G
  • NM_001407935.1:c.4787A>G
  • NM_001407936.1:c.4787A>G
  • NM_001407937.1:c.4934A>G
  • NM_001407938.1:c.4934A>G
  • NM_001407939.1:c.4931A>G
  • NM_001407940.1:c.4931A>G
  • NM_001407941.1:c.4928A>G
  • NM_001407942.1:c.4916A>G
  • NM_001407943.1:c.4913A>G
  • NM_001407944.1:c.4913A>G
  • NM_001407945.1:c.4913A>G
  • NM_001407946.1:c.4724A>G
  • NM_001407947.1:c.4724A>G
  • NM_001407948.1:c.4724A>G
  • NM_001407949.1:c.4724A>G
  • NM_001407950.1:c.4721A>G
  • NM_001407951.1:c.4721A>G
  • NM_001407952.1:c.4721A>G
  • NM_001407953.1:c.4721A>G
  • NM_001407954.1:c.4721A>G
  • NM_001407955.1:c.4721A>G
  • NM_001407956.1:c.4718A>G
  • NM_001407957.1:c.4718A>G
  • NM_001407958.1:c.4718A>G
  • NM_001407959.1:c.4676A>G
  • NM_001407960.1:c.4673A>G
  • NM_001407962.1:c.4673A>G
  • NM_001407963.1:c.4670A>G
  • NM_001407964.1:c.4595A>G
  • NM_001407965.1:c.4550A>G
  • NM_001407966.1:c.4169A>G
  • NM_001407967.1:c.4166A>G
  • NM_001407968.1:c.2453A>G
  • NM_001407969.1:c.2450A>G
  • NM_001407970.1:c.1814A>G
  • NM_001407971.1:c.1814A>G
  • NM_001407972.1:c.1811A>G
  • NM_001407973.1:c.1748A>G
  • NM_001407974.1:c.1748A>G
  • NM_001407975.1:c.1748A>G
  • NM_001407976.1:c.1748A>G
  • NM_001407977.1:c.1748A>G
  • NM_001407978.1:c.1748A>G
  • NM_001407979.1:c.1745A>G
  • NM_001407980.1:c.1745A>G
  • NM_001407981.1:c.1745A>G
  • NM_001407982.1:c.1745A>G
  • NM_001407983.1:c.1745A>G
  • NM_001407984.1:c.1745A>G
  • NM_001407985.1:c.1745A>G
  • NM_001407986.1:c.1745A>G
  • NM_001407990.1:c.1745A>G
  • NM_001407991.1:c.1745A>G
  • NM_001407992.1:c.1745A>G
  • NM_001407993.1:c.1745A>G
  • NM_001408392.1:c.1742A>G
  • NM_001408396.1:c.1742A>G
  • NM_001408397.1:c.1742A>G
  • NM_001408398.1:c.1742A>G
  • NM_001408399.1:c.1742A>G
  • NM_001408400.1:c.1742A>G
  • NM_001408401.1:c.1742A>G
  • NM_001408402.1:c.1742A>G
  • NM_001408403.1:c.1742A>G
  • NM_001408404.1:c.1742A>G
  • NM_001408406.1:c.1739A>G
  • NM_001408407.1:c.1739A>G
  • NM_001408408.1:c.1739A>G
  • NM_001408409.1:c.1736A>G
  • NM_001408410.1:c.1673A>G
  • NM_001408411.1:c.1670A>G
  • NM_001408412.1:c.1667A>G
  • NM_001408413.1:c.1667A>G
  • NM_001408414.1:c.1667A>G
  • NM_001408415.1:c.1667A>G
  • NM_001408416.1:c.1667A>G
  • NM_001408418.1:c.1631A>G
  • NM_001408419.1:c.1631A>G
  • NM_001408420.1:c.1631A>G
  • NM_001408421.1:c.1628A>G
  • NM_001408422.1:c.1628A>G
  • NM_001408423.1:c.1628A>G
  • NM_001408424.1:c.1628A>G
  • NM_001408425.1:c.1625A>G
  • NM_001408426.1:c.1625A>G
  • NM_001408427.1:c.1625A>G
  • NM_001408428.1:c.1625A>G
  • NM_001408429.1:c.1625A>G
  • NM_001408430.1:c.1625A>G
  • NM_001408431.1:c.1625A>G
  • NM_001408432.1:c.1622A>G
  • NM_001408433.1:c.1622A>G
  • NM_001408434.1:c.1622A>G
  • NM_001408435.1:c.1622A>G
  • NM_001408436.1:c.1622A>G
  • NM_001408437.1:c.1622A>G
  • NM_001408438.1:c.1622A>G
  • NM_001408439.1:c.1622A>G
  • NM_001408440.1:c.1622A>G
  • NM_001408441.1:c.1622A>G
  • NM_001408442.1:c.1622A>G
  • NM_001408443.1:c.1622A>G
  • NM_001408444.1:c.1622A>G
  • NM_001408445.1:c.1619A>G
  • NM_001408446.1:c.1619A>G
  • NM_001408447.1:c.1619A>G
  • NM_001408448.1:c.1619A>G
  • NM_001408450.1:c.1619A>G
  • NM_001408451.1:c.1613A>G
  • NM_001408452.1:c.1607A>G
  • NM_001408453.1:c.1607A>G
  • NM_001408454.1:c.1607A>G
  • NM_001408455.1:c.1607A>G
  • NM_001408456.1:c.1607A>G
  • NM_001408457.1:c.1607A>G
  • NM_001408458.1:c.1604A>G
  • NM_001408459.1:c.1604A>G
  • NM_001408460.1:c.1604A>G
  • NM_001408461.1:c.1604A>G
  • NM_001408462.1:c.1604A>G
  • NM_001408463.1:c.1604A>G
  • NM_001408464.1:c.1604A>G
  • NM_001408465.1:c.1604A>G
  • NM_001408466.1:c.1604A>G
  • NM_001408467.1:c.1604A>G
  • NM_001408468.1:c.1601A>G
  • NM_001408469.1:c.1601A>G
  • NM_001408470.1:c.1601A>G
  • NM_001408472.1:c.1745A>G
  • NM_001408473.1:c.1742A>G
  • NM_001408474.1:c.1547A>G
  • NM_001408475.1:c.1544A>G
  • NM_001408476.1:c.1544A>G
  • NM_001408478.1:c.1538A>G
  • NM_001408479.1:c.1538A>G
  • NM_001408480.1:c.1538A>G
  • NM_001408481.1:c.1535A>G
  • NM_001408482.1:c.1535A>G
  • NM_001408483.1:c.1535A>G
  • NM_001408484.1:c.1535A>G
  • NM_001408485.1:c.1535A>G
  • NM_001408489.1:c.1535A>G
  • NM_001408490.1:c.1535A>G
  • NM_001408491.1:c.1535A>G
  • NM_001408492.1:c.1532A>G
  • NM_001408493.1:c.1532A>G
  • NM_001408494.1:c.1508A>G
  • NM_001408495.1:c.1502A>G
  • NM_001408496.1:c.1484A>G
  • NM_001408497.1:c.1484A>G
  • NM_001408498.1:c.1484A>G
  • NM_001408499.1:c.1484A>G
  • NM_001408500.1:c.1484A>G
  • NM_001408501.1:c.1484A>G
  • NM_001408502.1:c.1481A>G
  • NM_001408503.1:c.1481A>G
  • NM_001408504.1:c.1481A>G
  • NM_001408505.1:c.1478A>G
  • NM_001408506.1:c.1421A>G
  • NM_001408507.1:c.1418A>G
  • NM_001408508.1:c.1409A>G
  • NM_001408509.1:c.1406A>G
  • NM_001408510.1:c.1367A>G
  • NM_001408511.1:c.1364A>G
  • NM_001408512.1:c.1244A>G
  • NM_001408513.1:c.1217A>G
  • NM_007294.4:c.5057A>GMANE SELECT
  • NM_007297.4:c.4916A>G
  • NM_007298.4:c.1745A>G
  • NM_007299.4:c.1745A>G
  • NM_007300.4:c.5120A>G
  • NM_007304.2:c.1745A>G
  • NP_001394500.1:p.His1615Arg
  • NP_001394510.1:p.His1708Arg
  • NP_001394511.1:p.His1708Arg
  • NP_001394512.1:p.His1707Arg
  • NP_001394514.1:p.His1707Arg
  • NP_001394516.1:p.His1707Arg
  • NP_001394519.1:p.His1706Arg
  • NP_001394520.1:p.His1706Arg
  • NP_001394522.1:p.His1686Arg
  • NP_001394523.1:p.His1686Arg
  • NP_001394525.1:p.His1686Arg
  • NP_001394526.1:p.His1686Arg
  • NP_001394527.1:p.His1686Arg
  • NP_001394531.1:p.His1686Arg
  • NP_001394532.1:p.His1686Arg
  • NP_001394534.1:p.His1686Arg
  • NP_001394539.1:p.His1685Arg
  • NP_001394540.1:p.His1685Arg
  • NP_001394541.1:p.His1685Arg
  • NP_001394542.1:p.His1685Arg
  • NP_001394543.1:p.His1685Arg
  • NP_001394544.1:p.His1685Arg
  • NP_001394545.1:p.His1685Arg
  • NP_001394546.1:p.His1685Arg
  • NP_001394547.1:p.His1685Arg
  • NP_001394548.1:p.His1685Arg
  • NP_001394549.1:p.His1685Arg
  • NP_001394550.1:p.His1685Arg
  • NP_001394551.1:p.His1685Arg
  • NP_001394552.1:p.His1685Arg
  • NP_001394553.1:p.His1685Arg
  • NP_001394554.1:p.His1685Arg
  • NP_001394555.1:p.His1685Arg
  • NP_001394556.1:p.His1684Arg
  • NP_001394557.1:p.His1684Arg
  • NP_001394558.1:p.His1684Arg
  • NP_001394559.1:p.His1684Arg
  • NP_001394560.1:p.His1684Arg
  • NP_001394561.1:p.His1684Arg
  • NP_001394562.1:p.His1684Arg
  • NP_001394563.1:p.His1684Arg
  • NP_001394564.1:p.His1684Arg
  • NP_001394565.1:p.His1684Arg
  • NP_001394566.1:p.His1684Arg
  • NP_001394567.1:p.His1684Arg
  • NP_001394568.1:p.His1684Arg
  • NP_001394569.1:p.His1684Arg
  • NP_001394570.1:p.His1684Arg
  • NP_001394571.1:p.His1684Arg
  • NP_001394573.1:p.His1683Arg
  • NP_001394574.1:p.His1683Arg
  • NP_001394575.1:p.His1682Arg
  • NP_001394576.1:p.His1681Arg
  • NP_001394577.1:p.His1667Arg
  • NP_001394578.1:p.His1666Arg
  • NP_001394581.1:p.His1686Arg
  • NP_001394582.1:p.His1660Arg
  • NP_001394583.1:p.His1660Arg
  • NP_001394584.1:p.His1660Arg
  • NP_001394585.1:p.His1659Arg
  • NP_001394586.1:p.His1659Arg
  • NP_001394587.1:p.His1659Arg
  • NP_001394588.1:p.His1658Arg
  • NP_001394589.1:p.His1658Arg
  • NP_001394590.1:p.His1658Arg
  • NP_001394591.1:p.His1658Arg
  • NP_001394592.1:p.His1658Arg
  • NP_001394593.1:p.His1645Arg
  • NP_001394594.1:p.His1645Arg
  • NP_001394595.1:p.His1645Arg
  • NP_001394596.1:p.His1645Arg
  • NP_001394597.1:p.His1645Arg
  • NP_001394598.1:p.His1645Arg
  • NP_001394599.1:p.His1644Arg
  • NP_001394600.1:p.His1644Arg
  • NP_001394601.1:p.His1644Arg
  • NP_001394602.1:p.His1644Arg
  • NP_001394603.1:p.His1644Arg
  • NP_001394604.1:p.His1644Arg
  • NP_001394605.1:p.His1644Arg
  • NP_001394606.1:p.His1644Arg
  • NP_001394607.1:p.His1644Arg
  • NP_001394608.1:p.His1644Arg
  • NP_001394609.1:p.His1644Arg
  • NP_001394610.1:p.His1643Arg
  • NP_001394611.1:p.His1643Arg
  • NP_001394612.1:p.His1643Arg
  • NP_001394613.1:p.His1686Arg
  • NP_001394614.1:p.His1643Arg
  • NP_001394615.1:p.His1643Arg
  • NP_001394616.1:p.His1643Arg
  • NP_001394617.1:p.His1643Arg
  • NP_001394618.1:p.His1643Arg
  • NP_001394619.1:p.His1642Arg
  • NP_001394620.1:p.His1642Arg
  • NP_001394621.1:p.His1639Arg
  • NP_001394623.1:p.His1639Arg
  • NP_001394624.1:p.His1639Arg
  • NP_001394625.1:p.His1639Arg
  • NP_001394626.1:p.His1639Arg
  • NP_001394627.1:p.His1639Arg
  • NP_001394653.1:p.His1639Arg
  • NP_001394654.1:p.His1639Arg
  • NP_001394655.1:p.His1639Arg
  • NP_001394656.1:p.His1639Arg
  • NP_001394657.1:p.His1639Arg
  • NP_001394658.1:p.His1639Arg
  • NP_001394659.1:p.His1639Arg
  • NP_001394660.1:p.His1639Arg
  • NP_001394661.1:p.His1638Arg
  • NP_001394662.1:p.His1638Arg
  • NP_001394663.1:p.His1638Arg
  • NP_001394664.1:p.His1638Arg
  • NP_001394665.1:p.His1638Arg
  • NP_001394666.1:p.His1638Arg
  • NP_001394667.1:p.His1638Arg
  • NP_001394668.1:p.His1638Arg
  • NP_001394669.1:p.His1638Arg
  • NP_001394670.1:p.His1638Arg
  • NP_001394671.1:p.His1638Arg
  • NP_001394672.1:p.His1638Arg
  • NP_001394673.1:p.His1638Arg
  • NP_001394674.1:p.His1638Arg
  • NP_001394675.1:p.His1638Arg
  • NP_001394676.1:p.His1638Arg
  • NP_001394677.1:p.His1638Arg
  • NP_001394678.1:p.His1638Arg
  • NP_001394679.1:p.His1638Arg
  • NP_001394680.1:p.His1638Arg
  • NP_001394681.1:p.His1638Arg
  • NP_001394767.1:p.His1637Arg
  • NP_001394768.1:p.His1637Arg
  • NP_001394770.1:p.His1637Arg
  • NP_001394771.1:p.His1637Arg
  • NP_001394772.1:p.His1637Arg
  • NP_001394773.1:p.His1637Arg
  • NP_001394774.1:p.His1637Arg
  • NP_001394775.1:p.His1637Arg
  • NP_001394776.1:p.His1637Arg
  • NP_001394777.1:p.His1637Arg
  • NP_001394778.1:p.His1637Arg
  • NP_001394779.1:p.His1637Arg
  • NP_001394780.1:p.His1637Arg
  • NP_001394781.1:p.His1637Arg
  • NP_001394782.1:p.His1637Arg
  • NP_001394783.1:p.His1686Arg
  • NP_001394787.1:p.His1685Arg
  • NP_001394788.1:p.His1685Arg
  • NP_001394789.1:p.His1685Arg
  • NP_001394790.1:p.His1684Arg
  • NP_001394791.1:p.His1619Arg
  • NP_001394792.1:p.His1644Arg
  • NP_001394803.1:p.His1617Arg
  • NP_001394804.1:p.His1617Arg
  • NP_001394808.1:p.His1616Arg
  • NP_001394810.1:p.His1616Arg
  • NP_001394811.1:p.His1616Arg
  • NP_001394813.1:p.His1616Arg
  • NP_001394814.1:p.His1616Arg
  • NP_001394815.1:p.His1616Arg
  • NP_001394816.1:p.His1616Arg
  • NP_001394818.1:p.His1616Arg
  • NP_001394823.1:p.His1615Arg
  • NP_001394824.1:p.His1615Arg
  • NP_001394825.1:p.His1615Arg
  • NP_001394826.1:p.His1615Arg
  • NP_001394827.1:p.His1615Arg
  • NP_001394828.1:p.His1615Arg
  • NP_001394829.1:p.His1615Arg
  • NP_001394831.1:p.His1615Arg
  • NP_001394833.1:p.His1615Arg
  • NP_001394835.1:p.His1615Arg
  • NP_001394836.1:p.His1615Arg
  • NP_001394837.1:p.His1615Arg
  • NP_001394838.1:p.His1615Arg
  • NP_001394839.1:p.His1615Arg
  • NP_001394844.1:p.His1614Arg
  • NP_001394845.1:p.His1614Arg
  • NP_001394846.1:p.His1614Arg
  • NP_001394847.1:p.His1614Arg
  • NP_001394848.1:p.His1645Arg
  • NP_001394849.1:p.His1598Arg
  • NP_001394850.1:p.His1598Arg
  • NP_001394851.1:p.His1598Arg
  • NP_001394852.1:p.His1598Arg
  • NP_001394853.1:p.His1598Arg
  • NP_001394854.1:p.His1598Arg
  • NP_001394855.1:p.His1598Arg
  • NP_001394856.1:p.His1597Arg
  • NP_001394857.1:p.His1597Arg
  • NP_001394858.1:p.His1597Arg
  • NP_001394859.1:p.His1597Arg
  • NP_001394860.1:p.His1597Arg
  • NP_001394861.1:p.His1597Arg
  • NP_001394862.1:p.His1597Arg
  • NP_001394863.1:p.His1596Arg
  • NP_001394864.1:p.His1596Arg
  • NP_001394865.1:p.His1596Arg
  • NP_001394866.1:p.His1645Arg
  • NP_001394867.1:p.His1645Arg
  • NP_001394868.1:p.His1644Arg
  • NP_001394869.1:p.His1644Arg
  • NP_001394870.1:p.His1643Arg
  • NP_001394871.1:p.His1639Arg
  • NP_001394872.1:p.His1638Arg
  • NP_001394873.1:p.His1638Arg
  • NP_001394874.1:p.His1638Arg
  • NP_001394875.1:p.His1575Arg
  • NP_001394876.1:p.His1575Arg
  • NP_001394877.1:p.His1575Arg
  • NP_001394878.1:p.His1575Arg
  • NP_001394879.1:p.His1574Arg
  • NP_001394880.1:p.His1574Arg
  • NP_001394881.1:p.His1574Arg
  • NP_001394882.1:p.His1574Arg
  • NP_001394883.1:p.His1574Arg
  • NP_001394884.1:p.His1574Arg
  • NP_001394885.1:p.His1573Arg
  • NP_001394886.1:p.His1573Arg
  • NP_001394887.1:p.His1573Arg
  • NP_001394888.1:p.His1559Arg
  • NP_001394889.1:p.His1558Arg
  • NP_001394891.1:p.His1558Arg
  • NP_001394892.1:p.His1557Arg
  • NP_001394893.1:p.His1532Arg
  • NP_001394894.1:p.His1517Arg
  • NP_001394895.1:p.His1390Arg
  • NP_001394896.1:p.His1389Arg
  • NP_001394897.1:p.His818Arg
  • NP_001394898.1:p.His817Arg
  • NP_001394899.1:p.His605Arg
  • NP_001394900.1:p.His605Arg
  • NP_001394901.1:p.His604Arg
  • NP_001394902.1:p.His583Arg
  • NP_001394903.1:p.His583Arg
  • NP_001394904.1:p.His583Arg
  • NP_001394905.1:p.His583Arg
  • NP_001394906.1:p.His583Arg
  • NP_001394907.1:p.His583Arg
  • NP_001394908.1:p.His582Arg
  • NP_001394909.1:p.His582Arg
  • NP_001394910.1:p.His582Arg
  • NP_001394911.1:p.His582Arg
  • NP_001394912.1:p.His582Arg
  • NP_001394913.1:p.His582Arg
  • NP_001394914.1:p.His582Arg
  • NP_001394915.1:p.His582Arg
  • NP_001394919.1:p.His582Arg
  • NP_001394920.1:p.His582Arg
  • NP_001394921.1:p.His582Arg
  • NP_001394922.1:p.His582Arg
  • NP_001395321.1:p.His581Arg
  • NP_001395325.1:p.His581Arg
  • NP_001395326.1:p.His581Arg
  • NP_001395327.1:p.His581Arg
  • NP_001395328.1:p.His581Arg
  • NP_001395329.1:p.His581Arg
  • NP_001395330.1:p.His581Arg
  • NP_001395331.1:p.His581Arg
  • NP_001395332.1:p.His581Arg
  • NP_001395333.1:p.His581Arg
  • NP_001395335.1:p.His580Arg
  • NP_001395336.1:p.His580Arg
  • NP_001395337.1:p.His580Arg
  • NP_001395338.1:p.His579Arg
  • NP_001395339.1:p.His558Arg
  • NP_001395340.1:p.His557Arg
  • NP_001395341.1:p.His556Arg
  • NP_001395342.1:p.His556Arg
  • NP_001395343.1:p.His556Arg
  • NP_001395344.1:p.His556Arg
  • NP_001395345.1:p.His556Arg
  • NP_001395347.1:p.His544Arg
  • NP_001395348.1:p.His544Arg
  • NP_001395349.1:p.His544Arg
  • NP_001395350.1:p.His543Arg
  • NP_001395351.1:p.His543Arg
  • NP_001395352.1:p.His543Arg
  • NP_001395353.1:p.His543Arg
  • NP_001395354.1:p.His542Arg
  • NP_001395355.1:p.His542Arg
  • NP_001395356.1:p.His542Arg
  • NP_001395357.1:p.His542Arg
  • NP_001395358.1:p.His542Arg
  • NP_001395359.1:p.His542Arg
  • NP_001395360.1:p.His542Arg
  • NP_001395361.1:p.His541Arg
  • NP_001395362.1:p.His541Arg
  • NP_001395363.1:p.His541Arg
  • NP_001395364.1:p.His541Arg
  • NP_001395365.1:p.His541Arg
  • NP_001395366.1:p.His541Arg
  • NP_001395367.1:p.His541Arg
  • NP_001395368.1:p.His541Arg
  • NP_001395369.1:p.His541Arg
  • NP_001395370.1:p.His541Arg
  • NP_001395371.1:p.His541Arg
  • NP_001395372.1:p.His541Arg
  • NP_001395373.1:p.His541Arg
  • NP_001395374.1:p.His540Arg
  • NP_001395375.1:p.His540Arg
  • NP_001395376.1:p.His540Arg
  • NP_001395377.1:p.His540Arg
  • NP_001395379.1:p.His540Arg
  • NP_001395380.1:p.His538Arg
  • NP_001395381.1:p.His536Arg
  • NP_001395382.1:p.His536Arg
  • NP_001395383.1:p.His536Arg
  • NP_001395384.1:p.His536Arg
  • NP_001395385.1:p.His536Arg
  • NP_001395386.1:p.His536Arg
  • NP_001395387.1:p.His535Arg
  • NP_001395388.1:p.His535Arg
  • NP_001395389.1:p.His535Arg
  • NP_001395390.1:p.His535Arg
  • NP_001395391.1:p.His535Arg
  • NP_001395392.1:p.His535Arg
  • NP_001395393.1:p.His535Arg
  • NP_001395394.1:p.His535Arg
  • NP_001395395.1:p.His535Arg
  • NP_001395396.1:p.His535Arg
  • NP_001395397.1:p.His534Arg
  • NP_001395398.1:p.His534Arg
  • NP_001395399.1:p.His534Arg
  • NP_001395401.1:p.His582Arg
  • NP_001395402.1:p.His581Arg
  • NP_001395403.1:p.His516Arg
  • NP_001395404.1:p.His515Arg
  • NP_001395405.1:p.His515Arg
  • NP_001395407.1:p.His513Arg
  • NP_001395408.1:p.His513Arg
  • NP_001395409.1:p.His513Arg
  • NP_001395410.1:p.His512Arg
  • NP_001395411.1:p.His512Arg
  • NP_001395412.1:p.His512Arg
  • NP_001395413.1:p.His512Arg
  • NP_001395414.1:p.His512Arg
  • NP_001395418.1:p.His512Arg
  • NP_001395419.1:p.His512Arg
  • NP_001395420.1:p.His512Arg
  • NP_001395421.1:p.His511Arg
  • NP_001395422.1:p.His511Arg
  • NP_001395423.1:p.His503Arg
  • NP_001395424.1:p.His501Arg
  • NP_001395425.1:p.His495Arg
  • NP_001395426.1:p.His495Arg
  • NP_001395427.1:p.His495Arg
  • NP_001395428.1:p.His495Arg
  • NP_001395429.1:p.His495Arg
  • NP_001395430.1:p.His495Arg
  • NP_001395431.1:p.His494Arg
  • NP_001395432.1:p.His494Arg
  • NP_001395433.1:p.His494Arg
  • NP_001395434.1:p.His493Arg
  • NP_001395435.1:p.His474Arg
  • NP_001395436.1:p.His473Arg
  • NP_001395437.1:p.His470Arg
  • NP_001395438.1:p.His469Arg
  • NP_001395439.1:p.His456Arg
  • NP_001395440.1:p.His455Arg
  • NP_001395441.1:p.His415Arg
  • NP_001395442.1:p.His406Arg
  • NP_009225.1:p.His1686Arg
  • NP_009225.1:p.His1686Arg
  • NP_009228.2:p.His1639Arg
  • NP_009229.2:p.His582Arg
  • NP_009229.2:p.His582Arg
  • NP_009230.2:p.His582Arg
  • NP_009231.2:p.His1707Arg
  • NP_009235.2:p.His582Arg
  • LRG_292t1:c.5057A>G
  • LRG_292:g.150359A>G
  • LRG_292p1:p.His1686Arg
  • NC_000017.10:g.41219642T>C
  • NM_007294.3:c.5057A>G
  • NM_007298.3:c.1745A>G
  • NR_027676.2:n.5234A>G
  • P38398:p.His1686Arg
Protein change:
H1389R
Links:
UniProtKB: P38398#VAR_070498; dbSNP: rs730882166
NCBI 1000 Genomes Browser:
rs730882166
Molecular consequence:
  • NM_001407571.1:c.4844A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407581.1:c.5123A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407582.1:c.5123A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407583.1:c.5120A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407585.1:c.5120A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407587.1:c.5120A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407590.1:c.5117A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407591.1:c.5117A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407593.1:c.5057A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407594.1:c.5057A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407596.1:c.5057A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407597.1:c.5057A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407598.1:c.5057A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407602.1:c.5057A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407603.1:c.5057A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407605.1:c.5057A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407610.1:c.5054A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407611.1:c.5054A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407612.1:c.5054A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407613.1:c.5054A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407614.1:c.5054A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407615.1:c.5054A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407616.1:c.5054A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407617.1:c.5054A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407618.1:c.5054A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407619.1:c.5054A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407620.1:c.5054A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407621.1:c.5054A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407622.1:c.5054A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407623.1:c.5054A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407624.1:c.5054A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407625.1:c.5054A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407626.1:c.5054A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407627.1:c.5051A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407628.1:c.5051A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407629.1:c.5051A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407630.1:c.5051A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407631.1:c.5051A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407632.1:c.5051A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407633.1:c.5051A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407634.1:c.5051A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407635.1:c.5051A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407636.1:c.5051A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407637.1:c.5051A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407638.1:c.5051A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407639.1:c.5051A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407640.1:c.5051A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407641.1:c.5051A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407642.1:c.5051A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407644.1:c.5048A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407645.1:c.5048A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407646.1:c.5045A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407647.1:c.5042A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407648.1:c.5000A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407649.1:c.4997A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407652.1:c.5057A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407653.1:c.4979A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407654.1:c.4979A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407655.1:c.4979A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407656.1:c.4976A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407657.1:c.4976A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407658.1:c.4976A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407659.1:c.4973A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407660.1:c.4973A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407661.1:c.4973A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407662.1:c.4973A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407663.1:c.4973A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407664.1:c.4934A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407665.1:c.4934A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407666.1:c.4934A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407667.1:c.4934A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407668.1:c.4934A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407669.1:c.4934A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407670.1:c.4931A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407671.1:c.4931A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407672.1:c.4931A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407673.1:c.4931A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407674.1:c.4931A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407675.1:c.4931A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407676.1:c.4931A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407677.1:c.4931A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407678.1:c.4931A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407679.1:c.4931A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407680.1:c.4931A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407681.1:c.4928A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407682.1:c.4928A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407683.1:c.4928A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407684.1:c.5057A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407685.1:c.4928A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407686.1:c.4928A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407687.1:c.4928A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407688.1:c.4928A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407689.1:c.4928A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407690.1:c.4925A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407691.1:c.4925A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407692.1:c.4916A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407694.1:c.4916A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407695.1:c.4916A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407696.1:c.4916A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407697.1:c.4916A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407698.1:c.4916A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407724.1:c.4916A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407725.1:c.4916A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407726.1:c.4916A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407727.1:c.4916A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407728.1:c.4916A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407729.1:c.4916A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407730.1:c.4916A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407731.1:c.4916A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407732.1:c.4913A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407733.1:c.4913A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407734.1:c.4913A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407735.1:c.4913A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407736.1:c.4913A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407737.1:c.4913A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407738.1:c.4913A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407739.1:c.4913A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407740.1:c.4913A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407741.1:c.4913A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407742.1:c.4913A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407743.1:c.4913A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407744.1:c.4913A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407745.1:c.4913A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407746.1:c.4913A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407747.1:c.4913A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407748.1:c.4913A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407749.1:c.4913A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407750.1:c.4913A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407751.1:c.4913A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407752.1:c.4913A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407838.1:c.4910A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407839.1:c.4910A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407841.1:c.4910A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407842.1:c.4910A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407843.1:c.4910A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407844.1:c.4910A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407845.1:c.4910A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407846.1:c.4910A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407847.1:c.4910A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407848.1:c.4910A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407849.1:c.4910A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407850.1:c.4910A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407851.1:c.4910A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407852.1:c.4910A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407853.1:c.4910A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407854.1:c.5057A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407858.1:c.5054A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407859.1:c.5054A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407860.1:c.5054A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407861.1:c.5051A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407862.1:c.4856A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407863.1:c.4931A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407874.1:c.4850A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407875.1:c.4850A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407879.1:c.4847A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407881.1:c.4847A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407882.1:c.4847A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407884.1:c.4847A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407885.1:c.4847A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407886.1:c.4847A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407887.1:c.4847A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407889.1:c.4847A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407894.1:c.4844A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407895.1:c.4844A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407896.1:c.4844A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407897.1:c.4844A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407898.1:c.4844A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407899.1:c.4844A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407900.1:c.4844A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407902.1:c.4844A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407904.1:c.4844A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407906.1:c.4844A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407907.1:c.4844A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407908.1:c.4844A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407909.1:c.4844A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407910.1:c.4844A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407915.1:c.4841A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407916.1:c.4841A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407917.1:c.4841A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407918.1:c.4841A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407919.1:c.4934A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407920.1:c.4793A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407921.1:c.4793A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407922.1:c.4793A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407923.1:c.4793A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407924.1:c.4793A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407925.1:c.4793A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407926.1:c.4793A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407927.1:c.4790A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407928.1:c.4790A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407929.1:c.4790A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407930.1:c.4790A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407931.1:c.4790A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407932.1:c.4790A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407933.1:c.4790A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407934.1:c.4787A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407935.1:c.4787A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407936.1:c.4787A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407937.1:c.4934A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407938.1:c.4934A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407939.1:c.4931A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407940.1:c.4931A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407941.1:c.4928A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407942.1:c.4916A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407943.1:c.4913A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407944.1:c.4913A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407945.1:c.4913A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407946.1:c.4724A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407947.1:c.4724A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407948.1:c.4724A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407949.1:c.4724A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407950.1:c.4721A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407951.1:c.4721A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407952.1:c.4721A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407953.1:c.4721A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407954.1:c.4721A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407955.1:c.4721A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407956.1:c.4718A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407957.1:c.4718A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407958.1:c.4718A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407959.1:c.4676A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407960.1:c.4673A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407962.1:c.4673A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407963.1:c.4670A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407964.1:c.4595A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407965.1:c.4550A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407966.1:c.4169A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407967.1:c.4166A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407968.1:c.2453A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407969.1:c.2450A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407970.1:c.1814A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407971.1:c.1814A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407972.1:c.1811A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407973.1:c.1748A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407974.1:c.1748A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407975.1:c.1748A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407976.1:c.1748A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407977.1:c.1748A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407978.1:c.1748A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407979.1:c.1745A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407980.1:c.1745A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407981.1:c.1745A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407982.1:c.1745A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407983.1:c.1745A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407984.1:c.1745A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407985.1:c.1745A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407986.1:c.1745A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407990.1:c.1745A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407991.1:c.1745A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407992.1:c.1745A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407993.1:c.1745A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408392.1:c.1742A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408396.1:c.1742A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408397.1:c.1742A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408398.1:c.1742A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408399.1:c.1742A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408400.1:c.1742A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408401.1:c.1742A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408402.1:c.1742A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408403.1:c.1742A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408404.1:c.1742A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408406.1:c.1739A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408407.1:c.1739A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408408.1:c.1739A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408409.1:c.1736A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408410.1:c.1673A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408411.1:c.1670A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408412.1:c.1667A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408413.1:c.1667A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408414.1:c.1667A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408415.1:c.1667A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408416.1:c.1667A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408418.1:c.1631A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408419.1:c.1631A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408420.1:c.1631A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408421.1:c.1628A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408422.1:c.1628A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408423.1:c.1628A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408424.1:c.1628A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408425.1:c.1625A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408426.1:c.1625A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408427.1:c.1625A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408428.1:c.1625A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408429.1:c.1625A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408430.1:c.1625A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408431.1:c.1625A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408432.1:c.1622A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408433.1:c.1622A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408434.1:c.1622A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408435.1:c.1622A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408436.1:c.1622A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408437.1:c.1622A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408438.1:c.1622A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408439.1:c.1622A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408440.1:c.1622A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408441.1:c.1622A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408442.1:c.1622A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408443.1:c.1622A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408444.1:c.1622A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408445.1:c.1619A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408446.1:c.1619A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408447.1:c.1619A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408448.1:c.1619A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408450.1:c.1619A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408451.1:c.1613A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408452.1:c.1607A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408453.1:c.1607A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408454.1:c.1607A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408455.1:c.1607A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408456.1:c.1607A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408457.1:c.1607A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408458.1:c.1604A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408459.1:c.1604A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408460.1:c.1604A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408461.1:c.1604A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408462.1:c.1604A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408463.1:c.1604A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408464.1:c.1604A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408465.1:c.1604A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408466.1:c.1604A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408467.1:c.1604A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408468.1:c.1601A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408469.1:c.1601A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408470.1:c.1601A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408472.1:c.1745A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408473.1:c.1742A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408474.1:c.1547A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408475.1:c.1544A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408476.1:c.1544A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408478.1:c.1538A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408479.1:c.1538A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408480.1:c.1538A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408481.1:c.1535A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408482.1:c.1535A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408483.1:c.1535A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408484.1:c.1535A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408485.1:c.1535A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408489.1:c.1535A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408490.1:c.1535A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408491.1:c.1535A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408492.1:c.1532A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408493.1:c.1532A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408494.1:c.1508A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408495.1:c.1502A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408496.1:c.1484A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408497.1:c.1484A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408498.1:c.1484A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408499.1:c.1484A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408500.1:c.1484A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408501.1:c.1484A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408502.1:c.1481A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408503.1:c.1481A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408504.1:c.1481A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408505.1:c.1478A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408506.1:c.1421A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408507.1:c.1418A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408508.1:c.1409A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408509.1:c.1406A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408510.1:c.1367A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408511.1:c.1364A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408512.1:c.1244A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408513.1:c.1217A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007294.4:c.5057A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007297.4:c.4916A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007298.4:c.1745A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007299.4:c.1745A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007300.4:c.5120A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007304.2:c.1745A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NR_027676.2:n.5234A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
Functional consequence:
functionally_abnormal [Sequence Ontology: SO:0002218] - Comment(s)

Condition(s)

Name:
Breast-ovarian cancer, familial, susceptibility to, 1 (BROVCA1)
Synonyms:
OVARIAN CANCER, SUSCEPTIBILITY TO; Breast cancer, familial 1
Identifiers:
MONDO: MONDO:0011450; MedGen: C2676676; Orphanet: 145; OMIM: 604370

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000212004Institute of Human Genetics, Medical University Innsbruck - BRCA-Tyrol
no assertion criteria provided

(clinical testing)		Pathogenic
(Feb 11, 2015) 		germlineclinical testing

SCV001242021Brotman Baty Institute, University of Washington
no classification provided
not providednot applicablein vitro

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

Citation Link,

SCV004228367Department of Medical and Surgical Sciences, University of Bologna
no assertion criteria provided
Likely pathogenic
(Sep 1, 2023) 		germlineclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providednot applicablenot applicablenot providednot providednot providednot providednot providedin vitro
not providedgermlineyesnot 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

Details of each submission

From Institute of Human Genetics, Medical University Innsbruck - BRCA-Tyrol, SCV000212004.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

From Brotman Baty Institute, University of Washington, SCV001242021.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedin vitro PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1not applicablenot applicablenot providednot providednot providednot providednot providednot providednot provided

From Department of Medical and Surgical Sciences, University of Bologna, SCV004228367.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

PS3(Strong)+PM2(Supporting)+PP4(Supporting) according to ACMG/AMP classification guidelines specified for BRCA1 & BRCA2 (Classification Criteria V1.0.0 2023-09-08 - https://cspec.genome.network/cspec/ui/svi/affiliation/50087) (PMID: 38160042)

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

Last Updated: Oct 8, 2024