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NM_007294.4(BRCA1):c.4882A>G (p.Met1628Val) AND not provided

Germline classification:
Conflicting interpretations of pathogenicity (3 submissions)
Last evaluated:
Mar 23, 2022
Review status:
criteria provided, conflicting classifications
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:
RCV000761958.33

Allele description [Variation Report for NM_007294.4(BRCA1):c.4882A>G (p.Met1628Val)]

NM_007294.4(BRCA1):c.4882A>G (p.Met1628Val)

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.4882A>G (p.Met1628Val)
Other names:
p.M1628V:ATG>GTG
HGVS:
  • NC_000017.11:g.43071032T>C
  • NG_005905.2:g.146952A>G
  • NM_001407571.1:c.4669A>G
  • NM_001407581.1:c.4948A>G
  • NM_001407582.1:c.4948A>G
  • NM_001407583.1:c.4945A>G
  • NM_001407585.1:c.4945A>G
  • NM_001407587.1:c.4945A>G
  • NM_001407590.1:c.4942A>G
  • NM_001407591.1:c.4942A>G
  • NM_001407593.1:c.4882A>G
  • NM_001407594.1:c.4882A>G
  • NM_001407596.1:c.4882A>G
  • NM_001407597.1:c.4882A>G
  • NM_001407598.1:c.4882A>G
  • NM_001407602.1:c.4882A>G
  • NM_001407603.1:c.4882A>G
  • NM_001407605.1:c.4882A>G
  • NM_001407610.1:c.4879A>G
  • NM_001407611.1:c.4879A>G
  • NM_001407612.1:c.4879A>G
  • NM_001407613.1:c.4879A>G
  • NM_001407614.1:c.4879A>G
  • NM_001407615.1:c.4879A>G
  • NM_001407616.1:c.4879A>G
  • NM_001407617.1:c.4879A>G
  • NM_001407618.1:c.4879A>G
  • NM_001407619.1:c.4879A>G
  • NM_001407620.1:c.4879A>G
  • NM_001407621.1:c.4879A>G
  • NM_001407622.1:c.4879A>G
  • NM_001407623.1:c.4879A>G
  • NM_001407624.1:c.4879A>G
  • NM_001407625.1:c.4879A>G
  • NM_001407626.1:c.4879A>G
  • NM_001407627.1:c.4876A>G
  • NM_001407628.1:c.4876A>G
  • NM_001407629.1:c.4876A>G
  • NM_001407630.1:c.4876A>G
  • NM_001407631.1:c.4876A>G
  • NM_001407632.1:c.4876A>G
  • NM_001407633.1:c.4876A>G
  • NM_001407634.1:c.4876A>G
  • NM_001407635.1:c.4876A>G
  • NM_001407636.1:c.4876A>G
  • NM_001407637.1:c.4876A>G
  • NM_001407638.1:c.4876A>G
  • NM_001407639.1:c.4876A>G
  • NM_001407640.1:c.4876A>G
  • NM_001407641.1:c.4876A>G
  • NM_001407642.1:c.4876A>G
  • NM_001407644.1:c.4873A>G
  • NM_001407645.1:c.4873A>G
  • NM_001407646.1:c.4870A>G
  • NM_001407647.1:c.4867A>G
  • NM_001407648.1:c.4825A>G
  • NM_001407649.1:c.4822A>G
  • NM_001407652.1:c.4882A>G
  • NM_001407653.1:c.4804A>G
  • NM_001407654.1:c.4804A>G
  • NM_001407655.1:c.4804A>G
  • NM_001407656.1:c.4801A>G
  • NM_001407657.1:c.4801A>G
  • NM_001407658.1:c.4801A>G
  • NM_001407659.1:c.4798A>G
  • NM_001407660.1:c.4798A>G
  • NM_001407661.1:c.4798A>G
  • NM_001407662.1:c.4798A>G
  • NM_001407663.1:c.4798A>G
  • NM_001407664.1:c.4759A>G
  • NM_001407665.1:c.4759A>G
  • NM_001407666.1:c.4759A>G
  • NM_001407667.1:c.4759A>G
  • NM_001407668.1:c.4759A>G
  • NM_001407669.1:c.4759A>G
  • NM_001407670.1:c.4756A>G
  • NM_001407671.1:c.4756A>G
  • NM_001407672.1:c.4756A>G
  • NM_001407673.1:c.4756A>G
  • NM_001407674.1:c.4756A>G
  • NM_001407675.1:c.4756A>G
  • NM_001407676.1:c.4756A>G
  • NM_001407677.1:c.4756A>G
  • NM_001407678.1:c.4756A>G
  • NM_001407679.1:c.4756A>G
  • NM_001407680.1:c.4756A>G
  • NM_001407681.1:c.4753A>G
  • NM_001407682.1:c.4753A>G
  • NM_001407683.1:c.4753A>G
  • NM_001407684.1:c.4882A>G
  • NM_001407685.1:c.4753A>G
  • NM_001407686.1:c.4753A>G
  • NM_001407687.1:c.4753A>G
  • NM_001407688.1:c.4753A>G
  • NM_001407689.1:c.4753A>G
  • NM_001407690.1:c.4750A>G
  • NM_001407691.1:c.4750A>G
  • NM_001407692.1:c.4741A>G
  • NM_001407694.1:c.4741A>G
  • NM_001407695.1:c.4741A>G
  • NM_001407696.1:c.4741A>G
  • NM_001407697.1:c.4741A>G
  • NM_001407698.1:c.4741A>G
  • NM_001407724.1:c.4741A>G
  • NM_001407725.1:c.4741A>G
  • NM_001407726.1:c.4741A>G
  • NM_001407727.1:c.4741A>G
  • NM_001407728.1:c.4741A>G
  • NM_001407729.1:c.4741A>G
  • NM_001407730.1:c.4741A>G
  • NM_001407731.1:c.4741A>G
  • NM_001407732.1:c.4738A>G
  • NM_001407733.1:c.4738A>G
  • NM_001407734.1:c.4738A>G
  • NM_001407735.1:c.4738A>G
  • NM_001407736.1:c.4738A>G
  • NM_001407737.1:c.4738A>G
  • NM_001407738.1:c.4738A>G
  • NM_001407739.1:c.4738A>G
  • NM_001407740.1:c.4738A>G
  • NM_001407741.1:c.4738A>G
  • NM_001407742.1:c.4738A>G
  • NM_001407743.1:c.4738A>G
  • NM_001407744.1:c.4738A>G
  • NM_001407745.1:c.4738A>G
  • NM_001407746.1:c.4738A>G
  • NM_001407747.1:c.4738A>G
  • NM_001407748.1:c.4738A>G
  • NM_001407749.1:c.4738A>G
  • NM_001407750.1:c.4738A>G
  • NM_001407751.1:c.4738A>G
  • NM_001407752.1:c.4738A>G
  • NM_001407838.1:c.4735A>G
  • NM_001407839.1:c.4735A>G
  • NM_001407841.1:c.4735A>G
  • NM_001407842.1:c.4735A>G
  • NM_001407843.1:c.4735A>G
  • NM_001407844.1:c.4735A>G
  • NM_001407845.1:c.4735A>G
  • NM_001407846.1:c.4735A>G
  • NM_001407847.1:c.4735A>G
  • NM_001407848.1:c.4735A>G
  • NM_001407849.1:c.4735A>G
  • NM_001407850.1:c.4735A>G
  • NM_001407851.1:c.4735A>G
  • NM_001407852.1:c.4735A>G
  • NM_001407853.1:c.4735A>G
  • NM_001407854.1:c.4882A>G
  • NM_001407858.1:c.4879A>G
  • NM_001407859.1:c.4879A>G
  • NM_001407860.1:c.4879A>G
  • NM_001407861.1:c.4876A>G
  • NM_001407862.1:c.4681A>G
  • NM_001407863.1:c.4756A>G
  • NM_001407874.1:c.4675A>G
  • NM_001407875.1:c.4675A>G
  • NM_001407879.1:c.4672A>G
  • NM_001407881.1:c.4672A>G
  • NM_001407882.1:c.4672A>G
  • NM_001407884.1:c.4672A>G
  • NM_001407885.1:c.4672A>G
  • NM_001407886.1:c.4672A>G
  • NM_001407887.1:c.4672A>G
  • NM_001407889.1:c.4672A>G
  • NM_001407894.1:c.4669A>G
  • NM_001407895.1:c.4669A>G
  • NM_001407896.1:c.4669A>G
  • NM_001407897.1:c.4669A>G
  • NM_001407898.1:c.4669A>G
  • NM_001407899.1:c.4669A>G
  • NM_001407900.1:c.4669A>G
  • NM_001407902.1:c.4669A>G
  • NM_001407904.1:c.4669A>G
  • NM_001407906.1:c.4669A>G
  • NM_001407907.1:c.4669A>G
  • NM_001407908.1:c.4669A>G
  • NM_001407909.1:c.4669A>G
  • NM_001407910.1:c.4669A>G
  • NM_001407915.1:c.4666A>G
  • NM_001407916.1:c.4666A>G
  • NM_001407917.1:c.4666A>G
  • NM_001407918.1:c.4666A>G
  • NM_001407919.1:c.4759A>G
  • NM_001407920.1:c.4618A>G
  • NM_001407921.1:c.4618A>G
  • NM_001407922.1:c.4618A>G
  • NM_001407923.1:c.4618A>G
  • NM_001407924.1:c.4618A>G
  • NM_001407925.1:c.4618A>G
  • NM_001407926.1:c.4618A>G
  • NM_001407927.1:c.4615A>G
  • NM_001407928.1:c.4615A>G
  • NM_001407929.1:c.4615A>G
  • NM_001407930.1:c.4615A>G
  • NM_001407931.1:c.4615A>G
  • NM_001407932.1:c.4615A>G
  • NM_001407933.1:c.4615A>G
  • NM_001407934.1:c.4612A>G
  • NM_001407935.1:c.4612A>G
  • NM_001407936.1:c.4612A>G
  • NM_001407937.1:c.4759A>G
  • NM_001407938.1:c.4759A>G
  • NM_001407939.1:c.4756A>G
  • NM_001407940.1:c.4756A>G
  • NM_001407941.1:c.4753A>G
  • NM_001407942.1:c.4741A>G
  • NM_001407943.1:c.4738A>G
  • NM_001407944.1:c.4738A>G
  • NM_001407945.1:c.4738A>G
  • NM_001407946.1:c.4549A>G
  • NM_001407947.1:c.4549A>G
  • NM_001407948.1:c.4549A>G
  • NM_001407949.1:c.4549A>G
  • NM_001407950.1:c.4546A>G
  • NM_001407951.1:c.4546A>G
  • NM_001407952.1:c.4546A>G
  • NM_001407953.1:c.4546A>G
  • NM_001407954.1:c.4546A>G
  • NM_001407955.1:c.4546A>G
  • NM_001407956.1:c.4543A>G
  • NM_001407957.1:c.4543A>G
  • NM_001407958.1:c.4543A>G
  • NM_001407959.1:c.4501A>G
  • NM_001407960.1:c.4498A>G
  • NM_001407962.1:c.4498A>G
  • NM_001407963.1:c.4495A>G
  • NM_001407964.1:c.4420A>G
  • NM_001407965.1:c.4375A>G
  • NM_001407966.1:c.3994A>G
  • NM_001407967.1:c.3991A>G
  • NM_001407968.1:c.2278A>G
  • NM_001407969.1:c.2275A>G
  • NM_001407970.1:c.1639A>G
  • NM_001407971.1:c.1639A>G
  • NM_001407972.1:c.1636A>G
  • NM_001407973.1:c.1573A>G
  • NM_001407974.1:c.1573A>G
  • NM_001407975.1:c.1573A>G
  • NM_001407976.1:c.1573A>G
  • NM_001407977.1:c.1573A>G
  • NM_001407978.1:c.1573A>G
  • NM_001407979.1:c.1570A>G
  • NM_001407980.1:c.1570A>G
  • NM_001407981.1:c.1570A>G
  • NM_001407982.1:c.1570A>G
  • NM_001407983.1:c.1570A>G
  • NM_001407984.1:c.1570A>G
  • NM_001407985.1:c.1570A>G
  • NM_001407986.1:c.1570A>G
  • NM_001407990.1:c.1570A>G
  • NM_001407991.1:c.1570A>G
  • NM_001407992.1:c.1570A>G
  • NM_001407993.1:c.1570A>G
  • NM_001408392.1:c.1567A>G
  • NM_001408396.1:c.1567A>G
  • NM_001408397.1:c.1567A>G
  • NM_001408398.1:c.1567A>G
  • NM_001408399.1:c.1567A>G
  • NM_001408400.1:c.1567A>G
  • NM_001408401.1:c.1567A>G
  • NM_001408402.1:c.1567A>G
  • NM_001408403.1:c.1567A>G
  • NM_001408404.1:c.1567A>G
  • NM_001408406.1:c.1564A>G
  • NM_001408407.1:c.1564A>G
  • NM_001408408.1:c.1564A>G
  • NM_001408409.1:c.1561A>G
  • NM_001408410.1:c.1498A>G
  • NM_001408411.1:c.1495A>G
  • NM_001408412.1:c.1492A>G
  • NM_001408413.1:c.1492A>G
  • NM_001408414.1:c.1492A>G
  • NM_001408415.1:c.1492A>G
  • NM_001408416.1:c.1492A>G
  • NM_001408418.1:c.1456A>G
  • NM_001408419.1:c.1456A>G
  • NM_001408420.1:c.1456A>G
  • NM_001408421.1:c.1453A>G
  • NM_001408422.1:c.1453A>G
  • NM_001408423.1:c.1453A>G
  • NM_001408424.1:c.1453A>G
  • NM_001408425.1:c.1450A>G
  • NM_001408426.1:c.1450A>G
  • NM_001408427.1:c.1450A>G
  • NM_001408428.1:c.1450A>G
  • NM_001408429.1:c.1450A>G
  • NM_001408430.1:c.1450A>G
  • NM_001408431.1:c.1450A>G
  • NM_001408432.1:c.1447A>G
  • NM_001408433.1:c.1447A>G
  • NM_001408434.1:c.1447A>G
  • NM_001408435.1:c.1447A>G
  • NM_001408436.1:c.1447A>G
  • NM_001408437.1:c.1447A>G
  • NM_001408438.1:c.1447A>G
  • NM_001408439.1:c.1447A>G
  • NM_001408440.1:c.1447A>G
  • NM_001408441.1:c.1447A>G
  • NM_001408442.1:c.1447A>G
  • NM_001408443.1:c.1447A>G
  • NM_001408444.1:c.1447A>G
  • NM_001408445.1:c.1444A>G
  • NM_001408446.1:c.1444A>G
  • NM_001408447.1:c.1444A>G
  • NM_001408448.1:c.1444A>G
  • NM_001408450.1:c.1444A>G
  • NM_001408451.1:c.1438A>G
  • NM_001408452.1:c.1432A>G
  • NM_001408453.1:c.1432A>G
  • NM_001408454.1:c.1432A>G
  • NM_001408455.1:c.1432A>G
  • NM_001408456.1:c.1432A>G
  • NM_001408457.1:c.1432A>G
  • NM_001408458.1:c.1429A>G
  • NM_001408459.1:c.1429A>G
  • NM_001408460.1:c.1429A>G
  • NM_001408461.1:c.1429A>G
  • NM_001408462.1:c.1429A>G
  • NM_001408463.1:c.1429A>G
  • NM_001408464.1:c.1429A>G
  • NM_001408465.1:c.1429A>G
  • NM_001408466.1:c.1429A>G
  • NM_001408467.1:c.1429A>G
  • NM_001408468.1:c.1426A>G
  • NM_001408469.1:c.1426A>G
  • NM_001408470.1:c.1426A>G
  • NM_001408472.1:c.1570A>G
  • NM_001408473.1:c.1567A>G
  • NM_001408474.1:c.1372A>G
  • NM_001408475.1:c.1369A>G
  • NM_001408476.1:c.1369A>G
  • NM_001408478.1:c.1363A>G
  • NM_001408479.1:c.1363A>G
  • NM_001408480.1:c.1363A>G
  • NM_001408481.1:c.1360A>G
  • NM_001408482.1:c.1360A>G
  • NM_001408483.1:c.1360A>G
  • NM_001408484.1:c.1360A>G
  • NM_001408485.1:c.1360A>G
  • NM_001408489.1:c.1360A>G
  • NM_001408490.1:c.1360A>G
  • NM_001408491.1:c.1360A>G
  • NM_001408492.1:c.1357A>G
  • NM_001408493.1:c.1357A>G
  • NM_001408494.1:c.1333A>G
  • NM_001408495.1:c.1327A>G
  • NM_001408496.1:c.1309A>G
  • NM_001408497.1:c.1309A>G
  • NM_001408498.1:c.1309A>G
  • NM_001408499.1:c.1309A>G
  • NM_001408500.1:c.1309A>G
  • NM_001408501.1:c.1309A>G
  • NM_001408502.1:c.1306A>G
  • NM_001408503.1:c.1306A>G
  • NM_001408504.1:c.1306A>G
  • NM_001408505.1:c.1303A>G
  • NM_001408506.1:c.1246A>G
  • NM_001408507.1:c.1243A>G
  • NM_001408508.1:c.1234A>G
  • NM_001408509.1:c.1231A>G
  • NM_001408510.1:c.1192A>G
  • NM_001408511.1:c.1189A>G
  • NM_001408512.1:c.1069A>G
  • NM_001408513.1:c.1042A>G
  • NM_007294.4:c.4882A>GMANE SELECT
  • NM_007297.4:c.4741A>G
  • NM_007298.4:c.1570A>G
  • NM_007299.4:c.1570A>G
  • NM_007300.4:c.4945A>G
  • NM_007304.2:c.1570A>G
  • NP_001394500.1:p.Met1557Val
  • NP_001394510.1:p.Met1650Val
  • NP_001394511.1:p.Met1650Val
  • NP_001394512.1:p.Met1649Val
  • NP_001394514.1:p.Met1649Val
  • NP_001394516.1:p.Met1649Val
  • NP_001394519.1:p.Met1648Val
  • NP_001394520.1:p.Met1648Val
  • NP_001394522.1:p.Met1628Val
  • NP_001394523.1:p.Met1628Val
  • NP_001394525.1:p.Met1628Val
  • NP_001394526.1:p.Met1628Val
  • NP_001394527.1:p.Met1628Val
  • NP_001394531.1:p.Met1628Val
  • NP_001394532.1:p.Met1628Val
  • NP_001394534.1:p.Met1628Val
  • NP_001394539.1:p.Met1627Val
  • NP_001394540.1:p.Met1627Val
  • NP_001394541.1:p.Met1627Val
  • NP_001394542.1:p.Met1627Val
  • NP_001394543.1:p.Met1627Val
  • NP_001394544.1:p.Met1627Val
  • NP_001394545.1:p.Met1627Val
  • NP_001394546.1:p.Met1627Val
  • NP_001394547.1:p.Met1627Val
  • NP_001394548.1:p.Met1627Val
  • NP_001394549.1:p.Met1627Val
  • NP_001394550.1:p.Met1627Val
  • NP_001394551.1:p.Met1627Val
  • NP_001394552.1:p.Met1627Val
  • NP_001394553.1:p.Met1627Val
  • NP_001394554.1:p.Met1627Val
  • NP_001394555.1:p.Met1627Val
  • NP_001394556.1:p.Met1626Val
  • NP_001394557.1:p.Met1626Val
  • NP_001394558.1:p.Met1626Val
  • NP_001394559.1:p.Met1626Val
  • NP_001394560.1:p.Met1626Val
  • NP_001394561.1:p.Met1626Val
  • NP_001394562.1:p.Met1626Val
  • NP_001394563.1:p.Met1626Val
  • NP_001394564.1:p.Met1626Val
  • NP_001394565.1:p.Met1626Val
  • NP_001394566.1:p.Met1626Val
  • NP_001394567.1:p.Met1626Val
  • NP_001394568.1:p.Met1626Val
  • NP_001394569.1:p.Met1626Val
  • NP_001394570.1:p.Met1626Val
  • NP_001394571.1:p.Met1626Val
  • NP_001394573.1:p.Met1625Val
  • NP_001394574.1:p.Met1625Val
  • NP_001394575.1:p.Met1624Val
  • NP_001394576.1:p.Met1623Val
  • NP_001394577.1:p.Met1609Val
  • NP_001394578.1:p.Met1608Val
  • NP_001394581.1:p.Met1628Val
  • NP_001394582.1:p.Met1602Val
  • NP_001394583.1:p.Met1602Val
  • NP_001394584.1:p.Met1602Val
  • NP_001394585.1:p.Met1601Val
  • NP_001394586.1:p.Met1601Val
  • NP_001394587.1:p.Met1601Val
  • NP_001394588.1:p.Met1600Val
  • NP_001394589.1:p.Met1600Val
  • NP_001394590.1:p.Met1600Val
  • NP_001394591.1:p.Met1600Val
  • NP_001394592.1:p.Met1600Val
  • NP_001394593.1:p.Met1587Val
  • NP_001394594.1:p.Met1587Val
  • NP_001394595.1:p.Met1587Val
  • NP_001394596.1:p.Met1587Val
  • NP_001394597.1:p.Met1587Val
  • NP_001394598.1:p.Met1587Val
  • NP_001394599.1:p.Met1586Val
  • NP_001394600.1:p.Met1586Val
  • NP_001394601.1:p.Met1586Val
  • NP_001394602.1:p.Met1586Val
  • NP_001394603.1:p.Met1586Val
  • NP_001394604.1:p.Met1586Val
  • NP_001394605.1:p.Met1586Val
  • NP_001394606.1:p.Met1586Val
  • NP_001394607.1:p.Met1586Val
  • NP_001394608.1:p.Met1586Val
  • NP_001394609.1:p.Met1586Val
  • NP_001394610.1:p.Met1585Val
  • NP_001394611.1:p.Met1585Val
  • NP_001394612.1:p.Met1585Val
  • NP_001394613.1:p.Met1628Val
  • NP_001394614.1:p.Met1585Val
  • NP_001394615.1:p.Met1585Val
  • NP_001394616.1:p.Met1585Val
  • NP_001394617.1:p.Met1585Val
  • NP_001394618.1:p.Met1585Val
  • NP_001394619.1:p.Met1584Val
  • NP_001394620.1:p.Met1584Val
  • NP_001394621.1:p.Met1581Val
  • NP_001394623.1:p.Met1581Val
  • NP_001394624.1:p.Met1581Val
  • NP_001394625.1:p.Met1581Val
  • NP_001394626.1:p.Met1581Val
  • NP_001394627.1:p.Met1581Val
  • NP_001394653.1:p.Met1581Val
  • NP_001394654.1:p.Met1581Val
  • NP_001394655.1:p.Met1581Val
  • NP_001394656.1:p.Met1581Val
  • NP_001394657.1:p.Met1581Val
  • NP_001394658.1:p.Met1581Val
  • NP_001394659.1:p.Met1581Val
  • NP_001394660.1:p.Met1581Val
  • NP_001394661.1:p.Met1580Val
  • NP_001394662.1:p.Met1580Val
  • NP_001394663.1:p.Met1580Val
  • NP_001394664.1:p.Met1580Val
  • NP_001394665.1:p.Met1580Val
  • NP_001394666.1:p.Met1580Val
  • NP_001394667.1:p.Met1580Val
  • NP_001394668.1:p.Met1580Val
  • NP_001394669.1:p.Met1580Val
  • NP_001394670.1:p.Met1580Val
  • NP_001394671.1:p.Met1580Val
  • NP_001394672.1:p.Met1580Val
  • NP_001394673.1:p.Met1580Val
  • NP_001394674.1:p.Met1580Val
  • NP_001394675.1:p.Met1580Val
  • NP_001394676.1:p.Met1580Val
  • NP_001394677.1:p.Met1580Val
  • NP_001394678.1:p.Met1580Val
  • NP_001394679.1:p.Met1580Val
  • NP_001394680.1:p.Met1580Val
  • NP_001394681.1:p.Met1580Val
  • NP_001394767.1:p.Met1579Val
  • NP_001394768.1:p.Met1579Val
  • NP_001394770.1:p.Met1579Val
  • NP_001394771.1:p.Met1579Val
  • NP_001394772.1:p.Met1579Val
  • NP_001394773.1:p.Met1579Val
  • NP_001394774.1:p.Met1579Val
  • NP_001394775.1:p.Met1579Val
  • NP_001394776.1:p.Met1579Val
  • NP_001394777.1:p.Met1579Val
  • NP_001394778.1:p.Met1579Val
  • NP_001394779.1:p.Met1579Val
  • NP_001394780.1:p.Met1579Val
  • NP_001394781.1:p.Met1579Val
  • NP_001394782.1:p.Met1579Val
  • NP_001394783.1:p.Met1628Val
  • NP_001394787.1:p.Met1627Val
  • NP_001394788.1:p.Met1627Val
  • NP_001394789.1:p.Met1627Val
  • NP_001394790.1:p.Met1626Val
  • NP_001394791.1:p.Met1561Val
  • NP_001394792.1:p.Met1586Val
  • NP_001394803.1:p.Met1559Val
  • NP_001394804.1:p.Met1559Val
  • NP_001394808.1:p.Met1558Val
  • NP_001394810.1:p.Met1558Val
  • NP_001394811.1:p.Met1558Val
  • NP_001394813.1:p.Met1558Val
  • NP_001394814.1:p.Met1558Val
  • NP_001394815.1:p.Met1558Val
  • NP_001394816.1:p.Met1558Val
  • NP_001394818.1:p.Met1558Val
  • NP_001394823.1:p.Met1557Val
  • NP_001394824.1:p.Met1557Val
  • NP_001394825.1:p.Met1557Val
  • NP_001394826.1:p.Met1557Val
  • NP_001394827.1:p.Met1557Val
  • NP_001394828.1:p.Met1557Val
  • NP_001394829.1:p.Met1557Val
  • NP_001394831.1:p.Met1557Val
  • NP_001394833.1:p.Met1557Val
  • NP_001394835.1:p.Met1557Val
  • NP_001394836.1:p.Met1557Val
  • NP_001394837.1:p.Met1557Val
  • NP_001394838.1:p.Met1557Val
  • NP_001394839.1:p.Met1557Val
  • NP_001394844.1:p.Met1556Val
  • NP_001394845.1:p.Met1556Val
  • NP_001394846.1:p.Met1556Val
  • NP_001394847.1:p.Met1556Val
  • NP_001394848.1:p.Met1587Val
  • NP_001394849.1:p.Met1540Val
  • NP_001394850.1:p.Met1540Val
  • NP_001394851.1:p.Met1540Val
  • NP_001394852.1:p.Met1540Val
  • NP_001394853.1:p.Met1540Val
  • NP_001394854.1:p.Met1540Val
  • NP_001394855.1:p.Met1540Val
  • NP_001394856.1:p.Met1539Val
  • NP_001394857.1:p.Met1539Val
  • NP_001394858.1:p.Met1539Val
  • NP_001394859.1:p.Met1539Val
  • NP_001394860.1:p.Met1539Val
  • NP_001394861.1:p.Met1539Val
  • NP_001394862.1:p.Met1539Val
  • NP_001394863.1:p.Met1538Val
  • NP_001394864.1:p.Met1538Val
  • NP_001394865.1:p.Met1538Val
  • NP_001394866.1:p.Met1587Val
  • NP_001394867.1:p.Met1587Val
  • NP_001394868.1:p.Met1586Val
  • NP_001394869.1:p.Met1586Val
  • NP_001394870.1:p.Met1585Val
  • NP_001394871.1:p.Met1581Val
  • NP_001394872.1:p.Met1580Val
  • NP_001394873.1:p.Met1580Val
  • NP_001394874.1:p.Met1580Val
  • NP_001394875.1:p.Met1517Val
  • NP_001394876.1:p.Met1517Val
  • NP_001394877.1:p.Met1517Val
  • NP_001394878.1:p.Met1517Val
  • NP_001394879.1:p.Met1516Val
  • NP_001394880.1:p.Met1516Val
  • NP_001394881.1:p.Met1516Val
  • NP_001394882.1:p.Met1516Val
  • NP_001394883.1:p.Met1516Val
  • NP_001394884.1:p.Met1516Val
  • NP_001394885.1:p.Met1515Val
  • NP_001394886.1:p.Met1515Val
  • NP_001394887.1:p.Met1515Val
  • NP_001394888.1:p.Met1501Val
  • NP_001394889.1:p.Met1500Val
  • NP_001394891.1:p.Met1500Val
  • NP_001394892.1:p.Met1499Val
  • NP_001394893.1:p.Met1474Val
  • NP_001394894.1:p.Met1459Val
  • NP_001394895.1:p.Met1332Val
  • NP_001394896.1:p.Met1331Val
  • NP_001394897.1:p.Met760Val
  • NP_001394898.1:p.Met759Val
  • NP_001394899.1:p.Met547Val
  • NP_001394900.1:p.Met547Val
  • NP_001394901.1:p.Met546Val
  • NP_001394902.1:p.Met525Val
  • NP_001394903.1:p.Met525Val
  • NP_001394904.1:p.Met525Val
  • NP_001394905.1:p.Met525Val
  • NP_001394906.1:p.Met525Val
  • NP_001394907.1:p.Met525Val
  • NP_001394908.1:p.Met524Val
  • NP_001394909.1:p.Met524Val
  • NP_001394910.1:p.Met524Val
  • NP_001394911.1:p.Met524Val
  • NP_001394912.1:p.Met524Val
  • NP_001394913.1:p.Met524Val
  • NP_001394914.1:p.Met524Val
  • NP_001394915.1:p.Met524Val
  • NP_001394919.1:p.Met524Val
  • NP_001394920.1:p.Met524Val
  • NP_001394921.1:p.Met524Val
  • NP_001394922.1:p.Met524Val
  • NP_001395321.1:p.Met523Val
  • NP_001395325.1:p.Met523Val
  • NP_001395326.1:p.Met523Val
  • NP_001395327.1:p.Met523Val
  • NP_001395328.1:p.Met523Val
  • NP_001395329.1:p.Met523Val
  • NP_001395330.1:p.Met523Val
  • NP_001395331.1:p.Met523Val
  • NP_001395332.1:p.Met523Val
  • NP_001395333.1:p.Met523Val
  • NP_001395335.1:p.Met522Val
  • NP_001395336.1:p.Met522Val
  • NP_001395337.1:p.Met522Val
  • NP_001395338.1:p.Met521Val
  • NP_001395339.1:p.Met500Val
  • NP_001395340.1:p.Met499Val
  • NP_001395341.1:p.Met498Val
  • NP_001395342.1:p.Met498Val
  • NP_001395343.1:p.Met498Val
  • NP_001395344.1:p.Met498Val
  • NP_001395345.1:p.Met498Val
  • NP_001395347.1:p.Met486Val
  • NP_001395348.1:p.Met486Val
  • NP_001395349.1:p.Met486Val
  • NP_001395350.1:p.Met485Val
  • NP_001395351.1:p.Met485Val
  • NP_001395352.1:p.Met485Val
  • NP_001395353.1:p.Met485Val
  • NP_001395354.1:p.Met484Val
  • NP_001395355.1:p.Met484Val
  • NP_001395356.1:p.Met484Val
  • NP_001395357.1:p.Met484Val
  • NP_001395358.1:p.Met484Val
  • NP_001395359.1:p.Met484Val
  • NP_001395360.1:p.Met484Val
  • NP_001395361.1:p.Met483Val
  • NP_001395362.1:p.Met483Val
  • NP_001395363.1:p.Met483Val
  • NP_001395364.1:p.Met483Val
  • NP_001395365.1:p.Met483Val
  • NP_001395366.1:p.Met483Val
  • NP_001395367.1:p.Met483Val
  • NP_001395368.1:p.Met483Val
  • NP_001395369.1:p.Met483Val
  • NP_001395370.1:p.Met483Val
  • NP_001395371.1:p.Met483Val
  • NP_001395372.1:p.Met483Val
  • NP_001395373.1:p.Met483Val
  • NP_001395374.1:p.Met482Val
  • NP_001395375.1:p.Met482Val
  • NP_001395376.1:p.Met482Val
  • NP_001395377.1:p.Met482Val
  • NP_001395379.1:p.Met482Val
  • NP_001395380.1:p.Met480Val
  • NP_001395381.1:p.Met478Val
  • NP_001395382.1:p.Met478Val
  • NP_001395383.1:p.Met478Val
  • NP_001395384.1:p.Met478Val
  • NP_001395385.1:p.Met478Val
  • NP_001395386.1:p.Met478Val
  • NP_001395387.1:p.Met477Val
  • NP_001395388.1:p.Met477Val
  • NP_001395389.1:p.Met477Val
  • NP_001395390.1:p.Met477Val
  • NP_001395391.1:p.Met477Val
  • NP_001395392.1:p.Met477Val
  • NP_001395393.1:p.Met477Val
  • NP_001395394.1:p.Met477Val
  • NP_001395395.1:p.Met477Val
  • NP_001395396.1:p.Met477Val
  • NP_001395397.1:p.Met476Val
  • NP_001395398.1:p.Met476Val
  • NP_001395399.1:p.Met476Val
  • NP_001395401.1:p.Met524Val
  • NP_001395402.1:p.Met523Val
  • NP_001395403.1:p.Met458Val
  • NP_001395404.1:p.Met457Val
  • NP_001395405.1:p.Met457Val
  • NP_001395407.1:p.Met455Val
  • NP_001395408.1:p.Met455Val
  • NP_001395409.1:p.Met455Val
  • NP_001395410.1:p.Met454Val
  • NP_001395411.1:p.Met454Val
  • NP_001395412.1:p.Met454Val
  • NP_001395413.1:p.Met454Val
  • NP_001395414.1:p.Met454Val
  • NP_001395418.1:p.Met454Val
  • NP_001395419.1:p.Met454Val
  • NP_001395420.1:p.Met454Val
  • NP_001395421.1:p.Met453Val
  • NP_001395422.1:p.Met453Val
  • NP_001395423.1:p.Met445Val
  • NP_001395424.1:p.Met443Val
  • NP_001395425.1:p.Met437Val
  • NP_001395426.1:p.Met437Val
  • NP_001395427.1:p.Met437Val
  • NP_001395428.1:p.Met437Val
  • NP_001395429.1:p.Met437Val
  • NP_001395430.1:p.Met437Val
  • NP_001395431.1:p.Met436Val
  • NP_001395432.1:p.Met436Val
  • NP_001395433.1:p.Met436Val
  • NP_001395434.1:p.Met435Val
  • NP_001395435.1:p.Met416Val
  • NP_001395436.1:p.Met415Val
  • NP_001395437.1:p.Met412Val
  • NP_001395438.1:p.Met411Val
  • NP_001395439.1:p.Met398Val
  • NP_001395440.1:p.Met397Val
  • NP_001395441.1:p.Met357Val
  • NP_001395442.1:p.Met348Val
  • NP_009225.1:p.Met1628Val
  • NP_009225.1:p.Met1628Val
  • NP_009228.2:p.Met1581Val
  • NP_009229.2:p.Met524Val
  • NP_009229.2:p.Met524Val
  • NP_009230.2:p.Met524Val
  • NP_009231.2:p.Met1649Val
  • NP_009235.2:p.Met524Val
  • LRG_292t1:c.4882A>G
  • LRG_292:g.146952A>G
  • LRG_292p1:p.Met1628Val
  • NC_000017.10:g.41223049T>C
  • NM_007294.3:c.4882A>G
  • NM_007297.3:c.4741A>G
  • NM_007298.3:c.1570A>G
  • NR_027676.2:n.5059A>G
  • P38398:p.Met1628Val
  • U14680.1:n.5001A>G
  • p.M1628V
Protein change:
M1331V
Links:
UniProtKB: P38398#VAR_007792; dbSNP: rs80357465
NCBI 1000 Genomes Browser:
rs80357465
Molecular consequence:
  • NM_001407571.1:c.4669A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407581.1:c.4948A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407582.1:c.4948A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407583.1:c.4945A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407585.1:c.4945A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407587.1:c.4945A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407590.1:c.4942A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407591.1:c.4942A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407593.1:c.4882A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407594.1:c.4882A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407596.1:c.4882A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407597.1:c.4882A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407598.1:c.4882A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407602.1:c.4882A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407603.1:c.4882A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407605.1:c.4882A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407610.1:c.4879A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407611.1:c.4879A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407612.1:c.4879A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407613.1:c.4879A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407614.1:c.4879A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407615.1:c.4879A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407616.1:c.4879A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407617.1:c.4879A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407618.1:c.4879A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407619.1:c.4879A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407620.1:c.4879A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407621.1:c.4879A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407622.1:c.4879A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407623.1:c.4879A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407624.1:c.4879A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407625.1:c.4879A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407626.1:c.4879A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407627.1:c.4876A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407628.1:c.4876A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407629.1:c.4876A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407630.1:c.4876A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407631.1:c.4876A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407632.1:c.4876A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407633.1:c.4876A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407634.1:c.4876A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407635.1:c.4876A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407636.1:c.4876A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407637.1:c.4876A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407638.1:c.4876A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407639.1:c.4876A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407640.1:c.4876A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407641.1:c.4876A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407642.1:c.4876A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407644.1:c.4873A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407645.1:c.4873A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407646.1:c.4870A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407647.1:c.4867A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407648.1:c.4825A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407649.1:c.4822A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407652.1:c.4882A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407653.1:c.4804A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407654.1:c.4804A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407655.1:c.4804A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407656.1:c.4801A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407657.1:c.4801A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407658.1:c.4801A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407659.1:c.4798A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407660.1:c.4798A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407661.1:c.4798A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407662.1:c.4798A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407663.1:c.4798A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407664.1:c.4759A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407665.1:c.4759A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407666.1:c.4759A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407667.1:c.4759A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407668.1:c.4759A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407669.1:c.4759A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407670.1:c.4756A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407671.1:c.4756A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407672.1:c.4756A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407673.1:c.4756A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407674.1:c.4756A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407675.1:c.4756A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407676.1:c.4756A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407677.1:c.4756A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407678.1:c.4756A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407679.1:c.4756A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407680.1:c.4756A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407681.1:c.4753A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407682.1:c.4753A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407683.1:c.4753A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407684.1:c.4882A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407685.1:c.4753A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407686.1:c.4753A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407687.1:c.4753A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407688.1:c.4753A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407689.1:c.4753A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407690.1:c.4750A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407691.1:c.4750A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407692.1:c.4741A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407694.1:c.4741A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407695.1:c.4741A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407696.1:c.4741A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407697.1:c.4741A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407698.1:c.4741A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407724.1:c.4741A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407725.1:c.4741A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407726.1:c.4741A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407727.1:c.4741A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407728.1:c.4741A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407729.1:c.4741A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407730.1:c.4741A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407731.1:c.4741A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407732.1:c.4738A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407733.1:c.4738A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407734.1:c.4738A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407735.1:c.4738A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407736.1:c.4738A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407737.1:c.4738A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407738.1:c.4738A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407739.1:c.4738A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407740.1:c.4738A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407741.1:c.4738A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407742.1:c.4738A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407743.1:c.4738A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407744.1:c.4738A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407745.1:c.4738A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407746.1:c.4738A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407747.1:c.4738A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407748.1:c.4738A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407749.1:c.4738A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407750.1:c.4738A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407751.1:c.4738A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407752.1:c.4738A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407838.1:c.4735A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407839.1:c.4735A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407841.1:c.4735A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407842.1:c.4735A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407843.1:c.4735A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407844.1:c.4735A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407845.1:c.4735A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407846.1:c.4735A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407847.1:c.4735A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407848.1:c.4735A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407849.1:c.4735A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407850.1:c.4735A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407851.1:c.4735A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407852.1:c.4735A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407853.1:c.4735A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407854.1:c.4882A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407858.1:c.4879A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407859.1:c.4879A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407860.1:c.4879A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407861.1:c.4876A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407862.1:c.4681A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407863.1:c.4756A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407874.1:c.4675A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407875.1:c.4675A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407879.1:c.4672A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407881.1:c.4672A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407882.1:c.4672A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407884.1:c.4672A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407885.1:c.4672A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407886.1:c.4672A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407887.1:c.4672A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407889.1:c.4672A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407894.1:c.4669A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407895.1:c.4669A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407896.1:c.4669A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407897.1:c.4669A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407898.1:c.4669A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407899.1:c.4669A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407900.1:c.4669A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407902.1:c.4669A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407904.1:c.4669A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407906.1:c.4669A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407907.1:c.4669A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407908.1:c.4669A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407909.1:c.4669A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407910.1:c.4669A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407915.1:c.4666A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407916.1:c.4666A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407917.1:c.4666A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407918.1:c.4666A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407919.1:c.4759A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407920.1:c.4618A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407921.1:c.4618A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407922.1:c.4618A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407923.1:c.4618A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407924.1:c.4618A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407925.1:c.4618A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407926.1:c.4618A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407927.1:c.4615A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407928.1:c.4615A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407929.1:c.4615A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407930.1:c.4615A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407931.1:c.4615A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407932.1:c.4615A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407933.1:c.4615A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407934.1:c.4612A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407935.1:c.4612A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407936.1:c.4612A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407937.1:c.4759A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407938.1:c.4759A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407939.1:c.4756A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407940.1:c.4756A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407941.1:c.4753A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407942.1:c.4741A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407943.1:c.4738A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407944.1:c.4738A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407945.1:c.4738A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407946.1:c.4549A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407947.1:c.4549A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407948.1:c.4549A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407949.1:c.4549A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407950.1:c.4546A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407951.1:c.4546A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407952.1:c.4546A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407953.1:c.4546A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407954.1:c.4546A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407955.1:c.4546A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407956.1:c.4543A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407957.1:c.4543A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407958.1:c.4543A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407959.1:c.4501A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407960.1:c.4498A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407962.1:c.4498A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407963.1:c.4495A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407964.1:c.4420A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407965.1:c.4375A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407966.1:c.3994A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407967.1:c.3991A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407968.1:c.2278A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407969.1:c.2275A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407970.1:c.1639A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407971.1:c.1639A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407972.1:c.1636A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407973.1:c.1573A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407974.1:c.1573A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407975.1:c.1573A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407976.1:c.1573A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407977.1:c.1573A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407978.1:c.1573A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407979.1:c.1570A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407980.1:c.1570A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407981.1:c.1570A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407982.1:c.1570A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407983.1:c.1570A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407984.1:c.1570A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407985.1:c.1570A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407986.1:c.1570A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407990.1:c.1570A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407991.1:c.1570A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407992.1:c.1570A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407993.1:c.1570A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408392.1:c.1567A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408396.1:c.1567A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408397.1:c.1567A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408398.1:c.1567A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408399.1:c.1567A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408400.1:c.1567A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408401.1:c.1567A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408402.1:c.1567A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408403.1:c.1567A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408404.1:c.1567A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408406.1:c.1564A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408407.1:c.1564A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408408.1:c.1564A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408409.1:c.1561A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408410.1:c.1498A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408411.1:c.1495A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408412.1:c.1492A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408413.1:c.1492A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408414.1:c.1492A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408415.1:c.1492A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408416.1:c.1492A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408418.1:c.1456A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408419.1:c.1456A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408420.1:c.1456A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408421.1:c.1453A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408422.1:c.1453A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408423.1:c.1453A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408424.1:c.1453A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408425.1:c.1450A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408426.1:c.1450A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408427.1:c.1450A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408428.1:c.1450A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408429.1:c.1450A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408430.1:c.1450A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408431.1:c.1450A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408432.1:c.1447A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408433.1:c.1447A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408434.1:c.1447A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408435.1:c.1447A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408436.1:c.1447A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408437.1:c.1447A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408438.1:c.1447A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408439.1:c.1447A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408440.1:c.1447A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408441.1:c.1447A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408442.1:c.1447A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408443.1:c.1447A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408444.1:c.1447A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408445.1:c.1444A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408446.1:c.1444A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408447.1:c.1444A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408448.1:c.1444A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408450.1:c.1444A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408451.1:c.1438A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408452.1:c.1432A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408453.1:c.1432A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408454.1:c.1432A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408455.1:c.1432A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408456.1:c.1432A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408457.1:c.1432A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408458.1:c.1429A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408459.1:c.1429A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408460.1:c.1429A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408461.1:c.1429A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408462.1:c.1429A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408463.1:c.1429A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408464.1:c.1429A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408465.1:c.1429A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408466.1:c.1429A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408467.1:c.1429A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408468.1:c.1426A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408469.1:c.1426A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408470.1:c.1426A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408472.1:c.1570A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408473.1:c.1567A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408474.1:c.1372A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408475.1:c.1369A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408476.1:c.1369A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408478.1:c.1363A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408479.1:c.1363A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408480.1:c.1363A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408481.1:c.1360A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408482.1:c.1360A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408483.1:c.1360A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408484.1:c.1360A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408485.1:c.1360A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408489.1:c.1360A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408490.1:c.1360A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408491.1:c.1360A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408492.1:c.1357A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408493.1:c.1357A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408494.1:c.1333A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408495.1:c.1327A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408496.1:c.1309A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408497.1:c.1309A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408498.1:c.1309A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408499.1:c.1309A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408500.1:c.1309A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408501.1:c.1309A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408502.1:c.1306A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408503.1:c.1306A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408504.1:c.1306A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408505.1:c.1303A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408506.1:c.1246A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408507.1:c.1243A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408508.1:c.1234A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408509.1:c.1231A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408510.1:c.1192A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408511.1:c.1189A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408512.1:c.1069A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408513.1:c.1042A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007294.4:c.4882A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007297.4:c.4741A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007298.4:c.1570A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007299.4:c.1570A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007300.4:c.4945A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007304.2:c.1570A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NR_027676.2:n.5059A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
Observations:
2

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000892185CeGaT Center for Human Genetics Tuebingen
criteria provided, single submitter

(CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)		Uncertain significance
(Jun 1, 2018) 		germlineclinical testing

Citation Link,

SCV001133597Quest Diagnostics Nichols Institute San Juan Capistrano
criteria provided, single submitter

(Quest Diagnostics criteria)		Likely benign
(Apr 24, 2019) 		germlineclinical testing

PubMed (11)
[See all records that cite these PMIDs]

SCV003799772ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
criteria provided, single submitter

(ARUP Molecular Germline Variant Investigation Process 2021)		Likely benign
(Mar 23, 2022) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes2not providednot providednot providednot providedclinical testing
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Comparison of BRCA1 polymorphisms, rare sequence variants and/or missense mutations in unaffected and breast/ovarian cancer populations.

Durocher F, Shattuck-Eidens D, McClure M, Labrie F, Skolnick MH, Goldgar DE, Simard J.

Hum Mol Genet. 1996 Jun;5(6):835-42.

PubMed [citation]
PMID:
8776600

Functional characterization of BRCA1 sequence variants using a yeast small colony phenotype assay.

Coyne RS, McDonald HB, Edgemon K, Brody LC.

Cancer Biol Ther. 2004 May;3(5):453-7. Epub 2004 May 18.

PubMed [citation]
PMID:
15004537
See all PubMed Citations (11)

Details of each submission

From CeGaT Center for Human Genetics Tuebingen, SCV000892185.26

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided2not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided2not providednot providednot provided

From Quest Diagnostics Nichols Institute San Juan Capistrano, SCV001133597.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (11)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

From ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories, SCV003799772.2

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

Last Updated: Sep 8, 2024