U.S. flag

An official website of the United States government

NM_007294.4(BRCA1):c.5057A>G (p.His1686Arg) AND Hereditary cancer-predisposing syndrome

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Dec 18, 2017
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000509750.5

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

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000607981Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Likely pathogenic
(Dec 18, 2017) 		germlineclinical testing

PubMed (3)
[See all records that cite these PMIDs]

Citation Link

Help

Summary from all submissions

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

Citations

PubMed

Mutations in the BRCT domain confer temperature sensitivity to BRCA1 in transcription activation.

Carvalho MA, Billack B, Chan E, Worley T, Cayanan C, Monteiro AN.

Cancer Biol Ther. 2002 Sep-Oct;1(5):502-8.

PubMed [citation]
PMID:
12496477

Clinical classification of BRCA1 DNA missense variants: H1686Q is a novel pathogenic mutation occurring in the ontogenetically invariant THV motif of the N-terminal BRCT domain.

Giannini G, Capalbo C, Ottini L, Buffone A, De Marchis L, Margaria E, Vitolo D, Ricevuto E, Rinaldi C, Zani M, Ferraro S, Marchetti P, Cortesi E, Frati L, Screpanti I, Gulino A.

J Clin Oncol. 2008 Sep 1;26(25):4212-4; author reply 4214-5. doi: 10.1200/JCO.2008.18.2089. No abstract available.

PubMed [citation]
PMID:
18757339
See all PubMed Citations (3)

Details of each submission

From Ambry Genetics, SCV000607981.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (3)

Description

The p.H1686R variant (also known as c.5057A>G), located in coding exon 15 of the BRCA1 gene, results from an A to G substitution at nucleotide position 5057. The histidine at codon 1686 is replaced by arginine, an amino acid with highly similar properties. This alteration is located in the functionally important BRCT domain, and in one study was classified as deleterious based on proliferation assays and cisplatin sensitivity cDNA functional assays in mouse embryonic stem cells (Bouwman P et al. Cancer Discov. 2013 Oct;3(10):1142-55). A different alteration located at the same position, p.H1686Q, has been reported in a individual with a personal history of breast cancer and a family history of breast and ovarian cancer (Giannini G, et al. J. Clin. Oncol. 2008;26(25):4212-4). In addition, a functional temperature sensitive study performed using yeast cells showed that p.H1686Q displayed a temperature-dependent activation of transcription when tested in human cells, indicating that this residue is located at a critical position for the stability of the BRCT domain (Carvalho MA, et al. Cancer Biol. Ther 1(5):502-8). The p.H1686R amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Based on the majority of available evidence to date, this variant is likely to be pathogenic.

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

Last Updated: Oct 8, 2024