U.S. flag

An official website of the United States government

NM_007294.4(BRCA1):c.4853A>G (p.His1618Arg) AND Hereditary breast ovarian cancer syndrome

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Sep 25, 2021
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:
RCV001858256.5

Allele description

NM_007294.4(BRCA1):c.4853A>G (p.His1618Arg)

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.4853A>G (p.His1618Arg)
HGVS:
  • NC_000017.11:g.43071061T>C
  • NG_005905.2:g.146923A>G
  • NM_001407571.1:c.4640A>G
  • NM_001407581.1:c.4919A>G
  • NM_001407582.1:c.4919A>G
  • NM_001407583.1:c.4916A>G
  • NM_001407585.1:c.4916A>G
  • NM_001407587.1:c.4916A>G
  • NM_001407590.1:c.4913A>G
  • NM_001407591.1:c.4913A>G
  • NM_001407593.1:c.4853A>G
  • NM_001407594.1:c.4853A>G
  • NM_001407596.1:c.4853A>G
  • NM_001407597.1:c.4853A>G
  • NM_001407598.1:c.4853A>G
  • NM_001407602.1:c.4853A>G
  • NM_001407603.1:c.4853A>G
  • NM_001407605.1:c.4853A>G
  • NM_001407610.1:c.4850A>G
  • NM_001407611.1:c.4850A>G
  • NM_001407612.1:c.4850A>G
  • NM_001407613.1:c.4850A>G
  • NM_001407614.1:c.4850A>G
  • NM_001407615.1:c.4850A>G
  • NM_001407616.1:c.4850A>G
  • NM_001407617.1:c.4850A>G
  • NM_001407618.1:c.4850A>G
  • NM_001407619.1:c.4850A>G
  • NM_001407620.1:c.4850A>G
  • NM_001407621.1:c.4850A>G
  • NM_001407622.1:c.4850A>G
  • NM_001407623.1:c.4850A>G
  • NM_001407624.1:c.4850A>G
  • NM_001407625.1:c.4850A>G
  • NM_001407626.1:c.4850A>G
  • NM_001407627.1:c.4847A>G
  • NM_001407628.1:c.4847A>G
  • NM_001407629.1:c.4847A>G
  • NM_001407630.1:c.4847A>G
  • NM_001407631.1:c.4847A>G
  • NM_001407632.1:c.4847A>G
  • NM_001407633.1:c.4847A>G
  • NM_001407634.1:c.4847A>G
  • NM_001407635.1:c.4847A>G
  • NM_001407636.1:c.4847A>G
  • NM_001407637.1:c.4847A>G
  • NM_001407638.1:c.4847A>G
  • NM_001407639.1:c.4847A>G
  • NM_001407640.1:c.4847A>G
  • NM_001407641.1:c.4847A>G
  • NM_001407642.1:c.4847A>G
  • NM_001407644.1:c.4844A>G
  • NM_001407645.1:c.4844A>G
  • NM_001407646.1:c.4841A>G
  • NM_001407647.1:c.4838A>G
  • NM_001407648.1:c.4796A>G
  • NM_001407649.1:c.4793A>G
  • NM_001407652.1:c.4853A>G
  • NM_001407653.1:c.4775A>G
  • NM_001407654.1:c.4775A>G
  • NM_001407655.1:c.4775A>G
  • NM_001407656.1:c.4772A>G
  • NM_001407657.1:c.4772A>G
  • NM_001407658.1:c.4772A>G
  • NM_001407659.1:c.4769A>G
  • NM_001407660.1:c.4769A>G
  • NM_001407661.1:c.4769A>G
  • NM_001407662.1:c.4769A>G
  • NM_001407663.1:c.4769A>G
  • NM_001407664.1:c.4730A>G
  • NM_001407665.1:c.4730A>G
  • NM_001407666.1:c.4730A>G
  • NM_001407667.1:c.4730A>G
  • NM_001407668.1:c.4730A>G
  • NM_001407669.1:c.4730A>G
  • NM_001407670.1:c.4727A>G
  • NM_001407671.1:c.4727A>G
  • NM_001407672.1:c.4727A>G
  • NM_001407673.1:c.4727A>G
  • NM_001407674.1:c.4727A>G
  • NM_001407675.1:c.4727A>G
  • NM_001407676.1:c.4727A>G
  • NM_001407677.1:c.4727A>G
  • NM_001407678.1:c.4727A>G
  • NM_001407679.1:c.4727A>G
  • NM_001407680.1:c.4727A>G
  • NM_001407681.1:c.4724A>G
  • NM_001407682.1:c.4724A>G
  • NM_001407683.1:c.4724A>G
  • NM_001407684.1:c.4853A>G
  • NM_001407685.1:c.4724A>G
  • NM_001407686.1:c.4724A>G
  • NM_001407687.1:c.4724A>G
  • NM_001407688.1:c.4724A>G
  • NM_001407689.1:c.4724A>G
  • NM_001407690.1:c.4721A>G
  • NM_001407691.1:c.4721A>G
  • NM_001407692.1:c.4712A>G
  • NM_001407694.1:c.4712A>G
  • NM_001407695.1:c.4712A>G
  • NM_001407696.1:c.4712A>G
  • NM_001407697.1:c.4712A>G
  • NM_001407698.1:c.4712A>G
  • NM_001407724.1:c.4712A>G
  • NM_001407725.1:c.4712A>G
  • NM_001407726.1:c.4712A>G
  • NM_001407727.1:c.4712A>G
  • NM_001407728.1:c.4712A>G
  • NM_001407729.1:c.4712A>G
  • NM_001407730.1:c.4712A>G
  • NM_001407731.1:c.4712A>G
  • NM_001407732.1:c.4709A>G
  • NM_001407733.1:c.4709A>G
  • NM_001407734.1:c.4709A>G
  • NM_001407735.1:c.4709A>G
  • NM_001407736.1:c.4709A>G
  • NM_001407737.1:c.4709A>G
  • NM_001407738.1:c.4709A>G
  • NM_001407739.1:c.4709A>G
  • NM_001407740.1:c.4709A>G
  • NM_001407741.1:c.4709A>G
  • NM_001407742.1:c.4709A>G
  • NM_001407743.1:c.4709A>G
  • NM_001407744.1:c.4709A>G
  • NM_001407745.1:c.4709A>G
  • NM_001407746.1:c.4709A>G
  • NM_001407747.1:c.4709A>G
  • NM_001407748.1:c.4709A>G
  • NM_001407749.1:c.4709A>G
  • NM_001407750.1:c.4709A>G
  • NM_001407751.1:c.4709A>G
  • NM_001407752.1:c.4709A>G
  • NM_001407838.1:c.4706A>G
  • NM_001407839.1:c.4706A>G
  • NM_001407841.1:c.4706A>G
  • NM_001407842.1:c.4706A>G
  • NM_001407843.1:c.4706A>G
  • NM_001407844.1:c.4706A>G
  • NM_001407845.1:c.4706A>G
  • NM_001407846.1:c.4706A>G
  • NM_001407847.1:c.4706A>G
  • NM_001407848.1:c.4706A>G
  • NM_001407849.1:c.4706A>G
  • NM_001407850.1:c.4706A>G
  • NM_001407851.1:c.4706A>G
  • NM_001407852.1:c.4706A>G
  • NM_001407853.1:c.4706A>G
  • NM_001407854.1:c.4853A>G
  • NM_001407858.1:c.4850A>G
  • NM_001407859.1:c.4850A>G
  • NM_001407860.1:c.4850A>G
  • NM_001407861.1:c.4847A>G
  • NM_001407862.1:c.4652A>G
  • NM_001407863.1:c.4727A>G
  • NM_001407874.1:c.4646A>G
  • NM_001407875.1:c.4646A>G
  • NM_001407879.1:c.4643A>G
  • NM_001407881.1:c.4643A>G
  • NM_001407882.1:c.4643A>G
  • NM_001407884.1:c.4643A>G
  • NM_001407885.1:c.4643A>G
  • NM_001407886.1:c.4643A>G
  • NM_001407887.1:c.4643A>G
  • NM_001407889.1:c.4643A>G
  • NM_001407894.1:c.4640A>G
  • NM_001407895.1:c.4640A>G
  • NM_001407896.1:c.4640A>G
  • NM_001407897.1:c.4640A>G
  • NM_001407898.1:c.4640A>G
  • NM_001407899.1:c.4640A>G
  • NM_001407900.1:c.4640A>G
  • NM_001407902.1:c.4640A>G
  • NM_001407904.1:c.4640A>G
  • NM_001407906.1:c.4640A>G
  • NM_001407907.1:c.4640A>G
  • NM_001407908.1:c.4640A>G
  • NM_001407909.1:c.4640A>G
  • NM_001407910.1:c.4640A>G
  • NM_001407915.1:c.4637A>G
  • NM_001407916.1:c.4637A>G
  • NM_001407917.1:c.4637A>G
  • NM_001407918.1:c.4637A>G
  • NM_001407919.1:c.4730A>G
  • NM_001407920.1:c.4589A>G
  • NM_001407921.1:c.4589A>G
  • NM_001407922.1:c.4589A>G
  • NM_001407923.1:c.4589A>G
  • NM_001407924.1:c.4589A>G
  • NM_001407925.1:c.4589A>G
  • NM_001407926.1:c.4589A>G
  • NM_001407927.1:c.4586A>G
  • NM_001407928.1:c.4586A>G
  • NM_001407929.1:c.4586A>G
  • NM_001407930.1:c.4586A>G
  • NM_001407931.1:c.4586A>G
  • NM_001407932.1:c.4586A>G
  • NM_001407933.1:c.4586A>G
  • NM_001407934.1:c.4583A>G
  • NM_001407935.1:c.4583A>G
  • NM_001407936.1:c.4583A>G
  • NM_001407937.1:c.4730A>G
  • NM_001407938.1:c.4730A>G
  • NM_001407939.1:c.4727A>G
  • NM_001407940.1:c.4727A>G
  • NM_001407941.1:c.4724A>G
  • NM_001407942.1:c.4712A>G
  • NM_001407943.1:c.4709A>G
  • NM_001407944.1:c.4709A>G
  • NM_001407945.1:c.4709A>G
  • NM_001407946.1:c.4520A>G
  • NM_001407947.1:c.4520A>G
  • NM_001407948.1:c.4520A>G
  • NM_001407949.1:c.4520A>G
  • NM_001407950.1:c.4517A>G
  • NM_001407951.1:c.4517A>G
  • NM_001407952.1:c.4517A>G
  • NM_001407953.1:c.4517A>G
  • NM_001407954.1:c.4517A>G
  • NM_001407955.1:c.4517A>G
  • NM_001407956.1:c.4514A>G
  • NM_001407957.1:c.4514A>G
  • NM_001407958.1:c.4514A>G
  • NM_001407959.1:c.4472A>G
  • NM_001407960.1:c.4469A>G
  • NM_001407962.1:c.4469A>G
  • NM_001407963.1:c.4466A>G
  • NM_001407964.1:c.4391A>G
  • NM_001407965.1:c.4346A>G
  • NM_001407966.1:c.3965A>G
  • NM_001407967.1:c.3962A>G
  • NM_001407968.1:c.2249A>G
  • NM_001407969.1:c.2246A>G
  • NM_001407970.1:c.1610A>G
  • NM_001407971.1:c.1610A>G
  • NM_001407972.1:c.1607A>G
  • NM_001407973.1:c.1544A>G
  • NM_001407974.1:c.1544A>G
  • NM_001407975.1:c.1544A>G
  • NM_001407976.1:c.1544A>G
  • NM_001407977.1:c.1544A>G
  • NM_001407978.1:c.1544A>G
  • NM_001407979.1:c.1541A>G
  • NM_001407980.1:c.1541A>G
  • NM_001407981.1:c.1541A>G
  • NM_001407982.1:c.1541A>G
  • NM_001407983.1:c.1541A>G
  • NM_001407984.1:c.1541A>G
  • NM_001407985.1:c.1541A>G
  • NM_001407986.1:c.1541A>G
  • NM_001407990.1:c.1541A>G
  • NM_001407991.1:c.1541A>G
  • NM_001407992.1:c.1541A>G
  • NM_001407993.1:c.1541A>G
  • NM_001408392.1:c.1538A>G
  • NM_001408396.1:c.1538A>G
  • NM_001408397.1:c.1538A>G
  • NM_001408398.1:c.1538A>G
  • NM_001408399.1:c.1538A>G
  • NM_001408400.1:c.1538A>G
  • NM_001408401.1:c.1538A>G
  • NM_001408402.1:c.1538A>G
  • NM_001408403.1:c.1538A>G
  • NM_001408404.1:c.1538A>G
  • NM_001408406.1:c.1535A>G
  • NM_001408407.1:c.1535A>G
  • NM_001408408.1:c.1535A>G
  • NM_001408409.1:c.1532A>G
  • NM_001408410.1:c.1469A>G
  • NM_001408411.1:c.1466A>G
  • NM_001408412.1:c.1463A>G
  • NM_001408413.1:c.1463A>G
  • NM_001408414.1:c.1463A>G
  • NM_001408415.1:c.1463A>G
  • NM_001408416.1:c.1463A>G
  • NM_001408418.1:c.1427A>G
  • NM_001408419.1:c.1427A>G
  • NM_001408420.1:c.1427A>G
  • NM_001408421.1:c.1424A>G
  • NM_001408422.1:c.1424A>G
  • NM_001408423.1:c.1424A>G
  • NM_001408424.1:c.1424A>G
  • NM_001408425.1:c.1421A>G
  • NM_001408426.1:c.1421A>G
  • NM_001408427.1:c.1421A>G
  • NM_001408428.1:c.1421A>G
  • NM_001408429.1:c.1421A>G
  • NM_001408430.1:c.1421A>G
  • NM_001408431.1:c.1421A>G
  • NM_001408432.1:c.1418A>G
  • NM_001408433.1:c.1418A>G
  • NM_001408434.1:c.1418A>G
  • NM_001408435.1:c.1418A>G
  • NM_001408436.1:c.1418A>G
  • NM_001408437.1:c.1418A>G
  • NM_001408438.1:c.1418A>G
  • NM_001408439.1:c.1418A>G
  • NM_001408440.1:c.1418A>G
  • NM_001408441.1:c.1418A>G
  • NM_001408442.1:c.1418A>G
  • NM_001408443.1:c.1418A>G
  • NM_001408444.1:c.1418A>G
  • NM_001408445.1:c.1415A>G
  • NM_001408446.1:c.1415A>G
  • NM_001408447.1:c.1415A>G
  • NM_001408448.1:c.1415A>G
  • NM_001408450.1:c.1415A>G
  • NM_001408451.1:c.1409A>G
  • NM_001408452.1:c.1403A>G
  • NM_001408453.1:c.1403A>G
  • NM_001408454.1:c.1403A>G
  • NM_001408455.1:c.1403A>G
  • NM_001408456.1:c.1403A>G
  • NM_001408457.1:c.1403A>G
  • NM_001408458.1:c.1400A>G
  • NM_001408459.1:c.1400A>G
  • NM_001408460.1:c.1400A>G
  • NM_001408461.1:c.1400A>G
  • NM_001408462.1:c.1400A>G
  • NM_001408463.1:c.1400A>G
  • NM_001408464.1:c.1400A>G
  • NM_001408465.1:c.1400A>G
  • NM_001408466.1:c.1400A>G
  • NM_001408467.1:c.1400A>G
  • NM_001408468.1:c.1397A>G
  • NM_001408469.1:c.1397A>G
  • NM_001408470.1:c.1397A>G
  • NM_001408472.1:c.1541A>G
  • NM_001408473.1:c.1538A>G
  • NM_001408474.1:c.1343A>G
  • NM_001408475.1:c.1340A>G
  • NM_001408476.1:c.1340A>G
  • NM_001408478.1:c.1334A>G
  • NM_001408479.1:c.1334A>G
  • NM_001408480.1:c.1334A>G
  • NM_001408481.1:c.1331A>G
  • NM_001408482.1:c.1331A>G
  • NM_001408483.1:c.1331A>G
  • NM_001408484.1:c.1331A>G
  • NM_001408485.1:c.1331A>G
  • NM_001408489.1:c.1331A>G
  • NM_001408490.1:c.1331A>G
  • NM_001408491.1:c.1331A>G
  • NM_001408492.1:c.1328A>G
  • NM_001408493.1:c.1328A>G
  • NM_001408494.1:c.1304A>G
  • NM_001408495.1:c.1298A>G
  • NM_001408496.1:c.1280A>G
  • NM_001408497.1:c.1280A>G
  • NM_001408498.1:c.1280A>G
  • NM_001408499.1:c.1280A>G
  • NM_001408500.1:c.1280A>G
  • NM_001408501.1:c.1280A>G
  • NM_001408502.1:c.1277A>G
  • NM_001408503.1:c.1277A>G
  • NM_001408504.1:c.1277A>G
  • NM_001408505.1:c.1274A>G
  • NM_001408506.1:c.1217A>G
  • NM_001408507.1:c.1214A>G
  • NM_001408508.1:c.1205A>G
  • NM_001408509.1:c.1202A>G
  • NM_001408510.1:c.1163A>G
  • NM_001408511.1:c.1160A>G
  • NM_001408512.1:c.1040A>G
  • NM_001408513.1:c.1013A>G
  • NM_007294.4:c.4853A>GMANE SELECT
  • NM_007297.4:c.4712A>G
  • NM_007298.4:c.1541A>G
  • NM_007299.4:c.1541A>G
  • NM_007300.3:c.4916A>G
  • NM_007300.4:c.4916A>G
  • NM_007304.2:c.1541A>G
  • NP_001394500.1:p.His1547Arg
  • NP_001394510.1:p.His1640Arg
  • NP_001394511.1:p.His1640Arg
  • NP_001394512.1:p.His1639Arg
  • NP_001394514.1:p.His1639Arg
  • NP_001394516.1:p.His1639Arg
  • NP_001394519.1:p.His1638Arg
  • NP_001394520.1:p.His1638Arg
  • NP_001394522.1:p.His1618Arg
  • NP_001394523.1:p.His1618Arg
  • NP_001394525.1:p.His1618Arg
  • NP_001394526.1:p.His1618Arg
  • NP_001394527.1:p.His1618Arg
  • NP_001394531.1:p.His1618Arg
  • NP_001394532.1:p.His1618Arg
  • NP_001394534.1:p.His1618Arg
  • NP_001394539.1:p.His1617Arg
  • NP_001394540.1:p.His1617Arg
  • NP_001394541.1:p.His1617Arg
  • NP_001394542.1:p.His1617Arg
  • NP_001394543.1:p.His1617Arg
  • NP_001394544.1:p.His1617Arg
  • NP_001394545.1:p.His1617Arg
  • NP_001394546.1:p.His1617Arg
  • NP_001394547.1:p.His1617Arg
  • NP_001394548.1:p.His1617Arg
  • NP_001394549.1:p.His1617Arg
  • NP_001394550.1:p.His1617Arg
  • NP_001394551.1:p.His1617Arg
  • NP_001394552.1:p.His1617Arg
  • NP_001394553.1:p.His1617Arg
  • NP_001394554.1:p.His1617Arg
  • NP_001394555.1:p.His1617Arg
  • NP_001394556.1:p.His1616Arg
  • NP_001394557.1:p.His1616Arg
  • NP_001394558.1:p.His1616Arg
  • NP_001394559.1:p.His1616Arg
  • NP_001394560.1:p.His1616Arg
  • NP_001394561.1:p.His1616Arg
  • NP_001394562.1:p.His1616Arg
  • NP_001394563.1:p.His1616Arg
  • NP_001394564.1:p.His1616Arg
  • NP_001394565.1:p.His1616Arg
  • NP_001394566.1:p.His1616Arg
  • NP_001394567.1:p.His1616Arg
  • NP_001394568.1:p.His1616Arg
  • NP_001394569.1:p.His1616Arg
  • NP_001394570.1:p.His1616Arg
  • NP_001394571.1:p.His1616Arg
  • NP_001394573.1:p.His1615Arg
  • NP_001394574.1:p.His1615Arg
  • NP_001394575.1:p.His1614Arg
  • NP_001394576.1:p.His1613Arg
  • NP_001394577.1:p.His1599Arg
  • NP_001394578.1:p.His1598Arg
  • NP_001394581.1:p.His1618Arg
  • NP_001394582.1:p.His1592Arg
  • NP_001394583.1:p.His1592Arg
  • NP_001394584.1:p.His1592Arg
  • NP_001394585.1:p.His1591Arg
  • NP_001394586.1:p.His1591Arg
  • NP_001394587.1:p.His1591Arg
  • NP_001394588.1:p.His1590Arg
  • NP_001394589.1:p.His1590Arg
  • NP_001394590.1:p.His1590Arg
  • NP_001394591.1:p.His1590Arg
  • NP_001394592.1:p.His1590Arg
  • NP_001394593.1:p.His1577Arg
  • NP_001394594.1:p.His1577Arg
  • NP_001394595.1:p.His1577Arg
  • NP_001394596.1:p.His1577Arg
  • NP_001394597.1:p.His1577Arg
  • NP_001394598.1:p.His1577Arg
  • NP_001394599.1:p.His1576Arg
  • NP_001394600.1:p.His1576Arg
  • NP_001394601.1:p.His1576Arg
  • NP_001394602.1:p.His1576Arg
  • NP_001394603.1:p.His1576Arg
  • NP_001394604.1:p.His1576Arg
  • NP_001394605.1:p.His1576Arg
  • NP_001394606.1:p.His1576Arg
  • NP_001394607.1:p.His1576Arg
  • NP_001394608.1:p.His1576Arg
  • NP_001394609.1:p.His1576Arg
  • NP_001394610.1:p.His1575Arg
  • NP_001394611.1:p.His1575Arg
  • NP_001394612.1:p.His1575Arg
  • NP_001394613.1:p.His1618Arg
  • NP_001394614.1:p.His1575Arg
  • NP_001394615.1:p.His1575Arg
  • NP_001394616.1:p.His1575Arg
  • NP_001394617.1:p.His1575Arg
  • NP_001394618.1:p.His1575Arg
  • NP_001394619.1:p.His1574Arg
  • NP_001394620.1:p.His1574Arg
  • NP_001394621.1:p.His1571Arg
  • NP_001394623.1:p.His1571Arg
  • NP_001394624.1:p.His1571Arg
  • NP_001394625.1:p.His1571Arg
  • NP_001394626.1:p.His1571Arg
  • NP_001394627.1:p.His1571Arg
  • NP_001394653.1:p.His1571Arg
  • NP_001394654.1:p.His1571Arg
  • NP_001394655.1:p.His1571Arg
  • NP_001394656.1:p.His1571Arg
  • NP_001394657.1:p.His1571Arg
  • NP_001394658.1:p.His1571Arg
  • NP_001394659.1:p.His1571Arg
  • NP_001394660.1:p.His1571Arg
  • NP_001394661.1:p.His1570Arg
  • NP_001394662.1:p.His1570Arg
  • NP_001394663.1:p.His1570Arg
  • NP_001394664.1:p.His1570Arg
  • NP_001394665.1:p.His1570Arg
  • NP_001394666.1:p.His1570Arg
  • NP_001394667.1:p.His1570Arg
  • NP_001394668.1:p.His1570Arg
  • NP_001394669.1:p.His1570Arg
  • NP_001394670.1:p.His1570Arg
  • NP_001394671.1:p.His1570Arg
  • NP_001394672.1:p.His1570Arg
  • NP_001394673.1:p.His1570Arg
  • NP_001394674.1:p.His1570Arg
  • NP_001394675.1:p.His1570Arg
  • NP_001394676.1:p.His1570Arg
  • NP_001394677.1:p.His1570Arg
  • NP_001394678.1:p.His1570Arg
  • NP_001394679.1:p.His1570Arg
  • NP_001394680.1:p.His1570Arg
  • NP_001394681.1:p.His1570Arg
  • NP_001394767.1:p.His1569Arg
  • NP_001394768.1:p.His1569Arg
  • NP_001394770.1:p.His1569Arg
  • NP_001394771.1:p.His1569Arg
  • NP_001394772.1:p.His1569Arg
  • NP_001394773.1:p.His1569Arg
  • NP_001394774.1:p.His1569Arg
  • NP_001394775.1:p.His1569Arg
  • NP_001394776.1:p.His1569Arg
  • NP_001394777.1:p.His1569Arg
  • NP_001394778.1:p.His1569Arg
  • NP_001394779.1:p.His1569Arg
  • NP_001394780.1:p.His1569Arg
  • NP_001394781.1:p.His1569Arg
  • NP_001394782.1:p.His1569Arg
  • NP_001394783.1:p.His1618Arg
  • NP_001394787.1:p.His1617Arg
  • NP_001394788.1:p.His1617Arg
  • NP_001394789.1:p.His1617Arg
  • NP_001394790.1:p.His1616Arg
  • NP_001394791.1:p.His1551Arg
  • NP_001394792.1:p.His1576Arg
  • NP_001394803.1:p.His1549Arg
  • NP_001394804.1:p.His1549Arg
  • NP_001394808.1:p.His1548Arg
  • NP_001394810.1:p.His1548Arg
  • NP_001394811.1:p.His1548Arg
  • NP_001394813.1:p.His1548Arg
  • NP_001394814.1:p.His1548Arg
  • NP_001394815.1:p.His1548Arg
  • NP_001394816.1:p.His1548Arg
  • NP_001394818.1:p.His1548Arg
  • NP_001394823.1:p.His1547Arg
  • NP_001394824.1:p.His1547Arg
  • NP_001394825.1:p.His1547Arg
  • NP_001394826.1:p.His1547Arg
  • NP_001394827.1:p.His1547Arg
  • NP_001394828.1:p.His1547Arg
  • NP_001394829.1:p.His1547Arg
  • NP_001394831.1:p.His1547Arg
  • NP_001394833.1:p.His1547Arg
  • NP_001394835.1:p.His1547Arg
  • NP_001394836.1:p.His1547Arg
  • NP_001394837.1:p.His1547Arg
  • NP_001394838.1:p.His1547Arg
  • NP_001394839.1:p.His1547Arg
  • NP_001394844.1:p.His1546Arg
  • NP_001394845.1:p.His1546Arg
  • NP_001394846.1:p.His1546Arg
  • NP_001394847.1:p.His1546Arg
  • NP_001394848.1:p.His1577Arg
  • NP_001394849.1:p.His1530Arg
  • NP_001394850.1:p.His1530Arg
  • NP_001394851.1:p.His1530Arg
  • NP_001394852.1:p.His1530Arg
  • NP_001394853.1:p.His1530Arg
  • NP_001394854.1:p.His1530Arg
  • NP_001394855.1:p.His1530Arg
  • NP_001394856.1:p.His1529Arg
  • NP_001394857.1:p.His1529Arg
  • NP_001394858.1:p.His1529Arg
  • NP_001394859.1:p.His1529Arg
  • NP_001394860.1:p.His1529Arg
  • NP_001394861.1:p.His1529Arg
  • NP_001394862.1:p.His1529Arg
  • NP_001394863.1:p.His1528Arg
  • NP_001394864.1:p.His1528Arg
  • NP_001394865.1:p.His1528Arg
  • NP_001394866.1:p.His1577Arg
  • NP_001394867.1:p.His1577Arg
  • NP_001394868.1:p.His1576Arg
  • NP_001394869.1:p.His1576Arg
  • NP_001394870.1:p.His1575Arg
  • NP_001394871.1:p.His1571Arg
  • NP_001394872.1:p.His1570Arg
  • NP_001394873.1:p.His1570Arg
  • NP_001394874.1:p.His1570Arg
  • NP_001394875.1:p.His1507Arg
  • NP_001394876.1:p.His1507Arg
  • NP_001394877.1:p.His1507Arg
  • NP_001394878.1:p.His1507Arg
  • NP_001394879.1:p.His1506Arg
  • NP_001394880.1:p.His1506Arg
  • NP_001394881.1:p.His1506Arg
  • NP_001394882.1:p.His1506Arg
  • NP_001394883.1:p.His1506Arg
  • NP_001394884.1:p.His1506Arg
  • NP_001394885.1:p.His1505Arg
  • NP_001394886.1:p.His1505Arg
  • NP_001394887.1:p.His1505Arg
  • NP_001394888.1:p.His1491Arg
  • NP_001394889.1:p.His1490Arg
  • NP_001394891.1:p.His1490Arg
  • NP_001394892.1:p.His1489Arg
  • NP_001394893.1:p.His1464Arg
  • NP_001394894.1:p.His1449Arg
  • NP_001394895.1:p.His1322Arg
  • NP_001394896.1:p.His1321Arg
  • NP_001394897.1:p.His750Arg
  • NP_001394898.1:p.His749Arg
  • NP_001394899.1:p.His537Arg
  • NP_001394900.1:p.His537Arg
  • NP_001394901.1:p.His536Arg
  • NP_001394902.1:p.His515Arg
  • NP_001394903.1:p.His515Arg
  • NP_001394904.1:p.His515Arg
  • NP_001394905.1:p.His515Arg
  • NP_001394906.1:p.His515Arg
  • NP_001394907.1:p.His515Arg
  • NP_001394908.1:p.His514Arg
  • NP_001394909.1:p.His514Arg
  • NP_001394910.1:p.His514Arg
  • NP_001394911.1:p.His514Arg
  • NP_001394912.1:p.His514Arg
  • NP_001394913.1:p.His514Arg
  • NP_001394914.1:p.His514Arg
  • NP_001394915.1:p.His514Arg
  • NP_001394919.1:p.His514Arg
  • NP_001394920.1:p.His514Arg
  • NP_001394921.1:p.His514Arg
  • NP_001394922.1:p.His514Arg
  • NP_001395321.1:p.His513Arg
  • NP_001395325.1:p.His513Arg
  • NP_001395326.1:p.His513Arg
  • NP_001395327.1:p.His513Arg
  • NP_001395328.1:p.His513Arg
  • NP_001395329.1:p.His513Arg
  • NP_001395330.1:p.His513Arg
  • NP_001395331.1:p.His513Arg
  • NP_001395332.1:p.His513Arg
  • NP_001395333.1:p.His513Arg
  • NP_001395335.1:p.His512Arg
  • NP_001395336.1:p.His512Arg
  • NP_001395337.1:p.His512Arg
  • NP_001395338.1:p.His511Arg
  • NP_001395339.1:p.His490Arg
  • NP_001395340.1:p.His489Arg
  • NP_001395341.1:p.His488Arg
  • NP_001395342.1:p.His488Arg
  • NP_001395343.1:p.His488Arg
  • NP_001395344.1:p.His488Arg
  • NP_001395345.1:p.His488Arg
  • NP_001395347.1:p.His476Arg
  • NP_001395348.1:p.His476Arg
  • NP_001395349.1:p.His476Arg
  • NP_001395350.1:p.His475Arg
  • NP_001395351.1:p.His475Arg
  • NP_001395352.1:p.His475Arg
  • NP_001395353.1:p.His475Arg
  • NP_001395354.1:p.His474Arg
  • NP_001395355.1:p.His474Arg
  • NP_001395356.1:p.His474Arg
  • NP_001395357.1:p.His474Arg
  • NP_001395358.1:p.His474Arg
  • NP_001395359.1:p.His474Arg
  • NP_001395360.1:p.His474Arg
  • NP_001395361.1:p.His473Arg
  • NP_001395362.1:p.His473Arg
  • NP_001395363.1:p.His473Arg
  • NP_001395364.1:p.His473Arg
  • NP_001395365.1:p.His473Arg
  • NP_001395366.1:p.His473Arg
  • NP_001395367.1:p.His473Arg
  • NP_001395368.1:p.His473Arg
  • NP_001395369.1:p.His473Arg
  • NP_001395370.1:p.His473Arg
  • NP_001395371.1:p.His473Arg
  • NP_001395372.1:p.His473Arg
  • NP_001395373.1:p.His473Arg
  • NP_001395374.1:p.His472Arg
  • NP_001395375.1:p.His472Arg
  • NP_001395376.1:p.His472Arg
  • NP_001395377.1:p.His472Arg
  • NP_001395379.1:p.His472Arg
  • NP_001395380.1:p.His470Arg
  • NP_001395381.1:p.His468Arg
  • NP_001395382.1:p.His468Arg
  • NP_001395383.1:p.His468Arg
  • NP_001395384.1:p.His468Arg
  • NP_001395385.1:p.His468Arg
  • NP_001395386.1:p.His468Arg
  • NP_001395387.1:p.His467Arg
  • NP_001395388.1:p.His467Arg
  • NP_001395389.1:p.His467Arg
  • NP_001395390.1:p.His467Arg
  • NP_001395391.1:p.His467Arg
  • NP_001395392.1:p.His467Arg
  • NP_001395393.1:p.His467Arg
  • NP_001395394.1:p.His467Arg
  • NP_001395395.1:p.His467Arg
  • NP_001395396.1:p.His467Arg
  • NP_001395397.1:p.His466Arg
  • NP_001395398.1:p.His466Arg
  • NP_001395399.1:p.His466Arg
  • NP_001395401.1:p.His514Arg
  • NP_001395402.1:p.His513Arg
  • NP_001395403.1:p.His448Arg
  • NP_001395404.1:p.His447Arg
  • NP_001395405.1:p.His447Arg
  • NP_001395407.1:p.His445Arg
  • NP_001395408.1:p.His445Arg
  • NP_001395409.1:p.His445Arg
  • NP_001395410.1:p.His444Arg
  • NP_001395411.1:p.His444Arg
  • NP_001395412.1:p.His444Arg
  • NP_001395413.1:p.His444Arg
  • NP_001395414.1:p.His444Arg
  • NP_001395418.1:p.His444Arg
  • NP_001395419.1:p.His444Arg
  • NP_001395420.1:p.His444Arg
  • NP_001395421.1:p.His443Arg
  • NP_001395422.1:p.His443Arg
  • NP_001395423.1:p.His435Arg
  • NP_001395424.1:p.His433Arg
  • NP_001395425.1:p.His427Arg
  • NP_001395426.1:p.His427Arg
  • NP_001395427.1:p.His427Arg
  • NP_001395428.1:p.His427Arg
  • NP_001395429.1:p.His427Arg
  • NP_001395430.1:p.His427Arg
  • NP_001395431.1:p.His426Arg
  • NP_001395432.1:p.His426Arg
  • NP_001395433.1:p.His426Arg
  • NP_001395434.1:p.His425Arg
  • NP_001395435.1:p.His406Arg
  • NP_001395436.1:p.His405Arg
  • NP_001395437.1:p.His402Arg
  • NP_001395438.1:p.His401Arg
  • NP_001395439.1:p.His388Arg
  • NP_001395440.1:p.His387Arg
  • NP_001395441.1:p.His347Arg
  • NP_001395442.1:p.His338Arg
  • NP_009225.1:p.His1618Arg
  • NP_009225.1:p.His1618Arg
  • NP_009228.2:p.His1571Arg
  • NP_009229.2:p.His514Arg
  • NP_009229.2:p.His514Arg
  • NP_009230.2:p.His514Arg
  • NP_009231.2:p.His1639Arg
  • NP_009235.2:p.His514Arg
  • LRG_292t1:c.4853A>G
  • LRG_292:g.146923A>G
  • LRG_292p1:p.His1618Arg
  • NC_000017.10:g.41223078T>C
  • NM_007294.3:c.4853A>G
  • NM_007298.3:c.1541A>G
  • NR_027676.2:n.5030A>G
Protein change:
H1321R
Links:
dbSNP: rs1277159752
NCBI 1000 Genomes Browser:
rs1277159752
Molecular consequence:
  • NM_001407571.1:c.4640A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407581.1:c.4919A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407582.1:c.4919A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407583.1:c.4916A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407585.1:c.4916A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407587.1:c.4916A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407590.1:c.4913A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407591.1:c.4913A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407593.1:c.4853A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407594.1:c.4853A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407596.1:c.4853A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407597.1:c.4853A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407598.1:c.4853A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407602.1:c.4853A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407603.1:c.4853A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407605.1:c.4853A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407610.1:c.4850A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407611.1:c.4850A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407612.1:c.4850A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407613.1:c.4850A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407614.1:c.4850A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407615.1:c.4850A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407616.1:c.4850A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407617.1:c.4850A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407618.1:c.4850A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407619.1:c.4850A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407620.1:c.4850A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407621.1:c.4850A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407622.1:c.4850A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407623.1:c.4850A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407624.1:c.4850A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407625.1:c.4850A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407626.1:c.4850A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407627.1:c.4847A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407628.1:c.4847A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407629.1:c.4847A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407630.1:c.4847A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407631.1:c.4847A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407632.1:c.4847A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407633.1:c.4847A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407634.1:c.4847A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407635.1:c.4847A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407636.1:c.4847A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407637.1:c.4847A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407638.1:c.4847A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407639.1:c.4847A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407640.1:c.4847A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407641.1:c.4847A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407642.1:c.4847A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407644.1:c.4844A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407645.1:c.4844A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407646.1:c.4841A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407647.1:c.4838A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407648.1:c.4796A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407649.1:c.4793A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407652.1:c.4853A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407653.1:c.4775A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407654.1:c.4775A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407655.1:c.4775A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407656.1:c.4772A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407657.1:c.4772A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407658.1:c.4772A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407659.1:c.4769A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407660.1:c.4769A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407661.1:c.4769A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407662.1:c.4769A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407663.1:c.4769A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407664.1:c.4730A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407665.1:c.4730A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407666.1:c.4730A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407667.1:c.4730A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407668.1:c.4730A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407669.1:c.4730A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407670.1:c.4727A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407671.1:c.4727A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407672.1:c.4727A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407673.1:c.4727A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407674.1:c.4727A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407675.1:c.4727A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407676.1:c.4727A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407677.1:c.4727A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407678.1:c.4727A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407679.1:c.4727A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407680.1:c.4727A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407681.1:c.4724A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407682.1:c.4724A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407683.1:c.4724A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407684.1:c.4853A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407685.1:c.4724A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407686.1:c.4724A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407687.1:c.4724A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407688.1:c.4724A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407689.1:c.4724A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407690.1:c.4721A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407691.1:c.4721A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407692.1:c.4712A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407694.1:c.4712A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407695.1:c.4712A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407696.1:c.4712A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407697.1:c.4712A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407698.1:c.4712A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407724.1:c.4712A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407725.1:c.4712A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407726.1:c.4712A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407727.1:c.4712A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407728.1:c.4712A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407729.1:c.4712A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407730.1:c.4712A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407731.1:c.4712A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407732.1:c.4709A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407733.1:c.4709A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407734.1:c.4709A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407735.1:c.4709A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407736.1:c.4709A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407737.1:c.4709A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407738.1:c.4709A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407739.1:c.4709A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407740.1:c.4709A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407741.1:c.4709A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407742.1:c.4709A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407743.1:c.4709A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407744.1:c.4709A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407745.1:c.4709A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407746.1:c.4709A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407747.1:c.4709A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407748.1:c.4709A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407749.1:c.4709A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407750.1:c.4709A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407751.1:c.4709A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407752.1:c.4709A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407838.1:c.4706A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407839.1:c.4706A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407841.1:c.4706A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407842.1:c.4706A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407843.1:c.4706A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407844.1:c.4706A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407845.1:c.4706A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407846.1:c.4706A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407847.1:c.4706A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407848.1:c.4706A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407849.1:c.4706A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407850.1:c.4706A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407851.1:c.4706A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407852.1:c.4706A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407853.1:c.4706A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407854.1:c.4853A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407858.1:c.4850A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407859.1:c.4850A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407860.1:c.4850A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407861.1:c.4847A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407862.1:c.4652A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407863.1:c.4727A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407874.1:c.4646A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407875.1:c.4646A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407879.1:c.4643A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407881.1:c.4643A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407882.1:c.4643A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407884.1:c.4643A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407885.1:c.4643A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407886.1:c.4643A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407887.1:c.4643A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407889.1:c.4643A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407894.1:c.4640A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407895.1:c.4640A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407896.1:c.4640A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407897.1:c.4640A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407898.1:c.4640A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407899.1:c.4640A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407900.1:c.4640A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407902.1:c.4640A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407904.1:c.4640A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407906.1:c.4640A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407907.1:c.4640A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407908.1:c.4640A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407909.1:c.4640A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407910.1:c.4640A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407915.1:c.4637A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407916.1:c.4637A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407917.1:c.4637A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407918.1:c.4637A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407919.1:c.4730A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407920.1:c.4589A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407921.1:c.4589A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407922.1:c.4589A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407923.1:c.4589A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407924.1:c.4589A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407925.1:c.4589A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407926.1:c.4589A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407927.1:c.4586A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407928.1:c.4586A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407929.1:c.4586A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407930.1:c.4586A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407931.1:c.4586A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407932.1:c.4586A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407933.1:c.4586A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407934.1:c.4583A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407935.1:c.4583A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407936.1:c.4583A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407937.1:c.4730A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407938.1:c.4730A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407939.1:c.4727A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407940.1:c.4727A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407941.1:c.4724A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407942.1:c.4712A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407943.1:c.4709A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407944.1:c.4709A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407945.1:c.4709A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407946.1:c.4520A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407947.1:c.4520A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407948.1:c.4520A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407949.1:c.4520A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407950.1:c.4517A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407951.1:c.4517A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407952.1:c.4517A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407953.1:c.4517A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407954.1:c.4517A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407955.1:c.4517A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407956.1:c.4514A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407957.1:c.4514A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407958.1:c.4514A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407959.1:c.4472A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407960.1:c.4469A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407962.1:c.4469A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407963.1:c.4466A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407964.1:c.4391A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407965.1:c.4346A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407966.1:c.3965A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407967.1:c.3962A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407968.1:c.2249A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407969.1:c.2246A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407970.1:c.1610A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407971.1:c.1610A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407972.1:c.1607A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407973.1:c.1544A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407974.1:c.1544A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407975.1:c.1544A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407976.1:c.1544A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407977.1:c.1544A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407978.1:c.1544A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407979.1:c.1541A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407980.1:c.1541A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407981.1:c.1541A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407982.1:c.1541A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407983.1:c.1541A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407984.1:c.1541A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407985.1:c.1541A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407986.1:c.1541A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407990.1:c.1541A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407991.1:c.1541A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407992.1:c.1541A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407993.1:c.1541A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408392.1:c.1538A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408396.1:c.1538A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408397.1:c.1538A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408398.1:c.1538A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408399.1:c.1538A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408400.1:c.1538A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408401.1:c.1538A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408402.1:c.1538A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408403.1:c.1538A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408404.1:c.1538A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408406.1:c.1535A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408407.1:c.1535A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408408.1:c.1535A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408409.1:c.1532A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408410.1:c.1469A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408411.1:c.1466A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408412.1:c.1463A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408413.1:c.1463A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408414.1:c.1463A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408415.1:c.1463A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408416.1:c.1463A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408418.1:c.1427A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408419.1:c.1427A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408420.1:c.1427A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408421.1:c.1424A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408422.1:c.1424A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408423.1:c.1424A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408424.1:c.1424A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408425.1:c.1421A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408426.1:c.1421A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408427.1:c.1421A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408428.1:c.1421A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408429.1:c.1421A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408430.1:c.1421A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408431.1:c.1421A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408432.1:c.1418A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408433.1:c.1418A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408434.1:c.1418A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408435.1:c.1418A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408436.1:c.1418A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408437.1:c.1418A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408438.1:c.1418A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408439.1:c.1418A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408440.1:c.1418A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408441.1:c.1418A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408442.1:c.1418A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408443.1:c.1418A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408444.1:c.1418A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408445.1:c.1415A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408446.1:c.1415A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408447.1:c.1415A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408448.1:c.1415A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408450.1:c.1415A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408451.1:c.1409A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408452.1:c.1403A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408453.1:c.1403A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408454.1:c.1403A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408455.1:c.1403A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408456.1:c.1403A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408457.1:c.1403A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408458.1:c.1400A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408459.1:c.1400A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408460.1:c.1400A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408461.1:c.1400A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408462.1:c.1400A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408463.1:c.1400A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408464.1:c.1400A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408465.1:c.1400A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408466.1:c.1400A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408467.1:c.1400A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408468.1:c.1397A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408469.1:c.1397A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408470.1:c.1397A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408472.1:c.1541A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408473.1:c.1538A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408474.1:c.1343A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408475.1:c.1340A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408476.1:c.1340A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408478.1:c.1334A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408479.1:c.1334A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408480.1:c.1334A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408481.1:c.1331A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408482.1:c.1331A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408483.1:c.1331A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408484.1:c.1331A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408485.1:c.1331A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408489.1:c.1331A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408490.1:c.1331A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408491.1:c.1331A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408492.1:c.1328A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408493.1:c.1328A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408494.1:c.1304A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408495.1:c.1298A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408496.1:c.1280A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408497.1:c.1280A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408498.1:c.1280A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408499.1:c.1280A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408500.1:c.1280A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408501.1:c.1280A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408502.1:c.1277A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408503.1:c.1277A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408504.1:c.1277A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408505.1:c.1274A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408506.1:c.1217A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408507.1:c.1214A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408508.1:c.1205A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408509.1:c.1202A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408510.1:c.1163A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408511.1:c.1160A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408512.1:c.1040A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408513.1:c.1013A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007294.4:c.4853A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007297.4:c.4712A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007298.4:c.1541A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007299.4:c.1541A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007300.4:c.4916A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007304.2:c.1541A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NR_027676.2:n.5030A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

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

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
SCV002313420Invitae
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Uncertain significance
(Sep 25, 2021) 		germlineclinical testing

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

Help

Summary from all submissions

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

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]
PMID:
28492532
PMCID:
PMC5632818

Details of each submission

From Invitae, SCV002313420.3

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

Description

This sequence change replaces histidine with arginine at codon 1618 of the BRCA1 protein (p.His1618Arg). The histidine residue is weakly conserved and there is a small physicochemical difference between histidine and arginine. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt BRCA1 protein function. ClinVar contains an entry for this variant (Variation ID: 482919). This variant has not been reported in the literature in individuals affected with BRCA1-related conditions. This variant is not present in population databases (ExAC no frequency).

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

Last Updated: Jul 15, 2024