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NM_007294.4(BRCA1):c.4816A>G (p.Lys1606Glu) AND Hereditary cancer-predisposing syndrome

Germline classification:
Likely benign (3 submissions)
Last evaluated:
May 10, 2021
Review status:
2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts
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:
RCV000130005.18

Allele description [Variation Report for NM_007294.4(BRCA1):c.4816A>G (p.Lys1606Glu)]

NM_007294.4(BRCA1):c.4816A>G (p.Lys1606Glu)

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.4816A>G (p.Lys1606Glu)
HGVS:
  • NC_000017.11:g.43071098T>C
  • NG_005905.2:g.146886A>G
  • NM_001407571.1:c.4603A>G
  • NM_001407581.1:c.4882A>G
  • NM_001407582.1:c.4882A>G
  • NM_001407583.1:c.4879A>G
  • NM_001407585.1:c.4879A>G
  • NM_001407587.1:c.4879A>G
  • NM_001407590.1:c.4876A>G
  • NM_001407591.1:c.4876A>G
  • NM_001407593.1:c.4816A>G
  • NM_001407594.1:c.4816A>G
  • NM_001407596.1:c.4816A>G
  • NM_001407597.1:c.4816A>G
  • NM_001407598.1:c.4816A>G
  • NM_001407602.1:c.4816A>G
  • NM_001407603.1:c.4816A>G
  • NM_001407605.1:c.4816A>G
  • NM_001407610.1:c.4813A>G
  • NM_001407611.1:c.4813A>G
  • NM_001407612.1:c.4813A>G
  • NM_001407613.1:c.4813A>G
  • NM_001407614.1:c.4813A>G
  • NM_001407615.1:c.4813A>G
  • NM_001407616.1:c.4813A>G
  • NM_001407617.1:c.4813A>G
  • NM_001407618.1:c.4813A>G
  • NM_001407619.1:c.4813A>G
  • NM_001407620.1:c.4813A>G
  • NM_001407621.1:c.4813A>G
  • NM_001407622.1:c.4813A>G
  • NM_001407623.1:c.4813A>G
  • NM_001407624.1:c.4813A>G
  • NM_001407625.1:c.4813A>G
  • NM_001407626.1:c.4813A>G
  • NM_001407627.1:c.4810A>G
  • NM_001407628.1:c.4810A>G
  • NM_001407629.1:c.4810A>G
  • NM_001407630.1:c.4810A>G
  • NM_001407631.1:c.4810A>G
  • NM_001407632.1:c.4810A>G
  • NM_001407633.1:c.4810A>G
  • NM_001407634.1:c.4810A>G
  • NM_001407635.1:c.4810A>G
  • NM_001407636.1:c.4810A>G
  • NM_001407637.1:c.4810A>G
  • NM_001407638.1:c.4810A>G
  • NM_001407639.1:c.4810A>G
  • NM_001407640.1:c.4810A>G
  • NM_001407641.1:c.4810A>G
  • NM_001407642.1:c.4810A>G
  • NM_001407644.1:c.4807A>G
  • NM_001407645.1:c.4807A>G
  • NM_001407646.1:c.4804A>G
  • NM_001407647.1:c.4801A>G
  • NM_001407648.1:c.4759A>G
  • NM_001407649.1:c.4756A>G
  • NM_001407652.1:c.4816A>G
  • NM_001407653.1:c.4738A>G
  • NM_001407654.1:c.4738A>G
  • NM_001407655.1:c.4738A>G
  • NM_001407656.1:c.4735A>G
  • NM_001407657.1:c.4735A>G
  • NM_001407658.1:c.4735A>G
  • NM_001407659.1:c.4732A>G
  • NM_001407660.1:c.4732A>G
  • NM_001407661.1:c.4732A>G
  • NM_001407662.1:c.4732A>G
  • NM_001407663.1:c.4732A>G
  • NM_001407664.1:c.4693A>G
  • NM_001407665.1:c.4693A>G
  • NM_001407666.1:c.4693A>G
  • NM_001407667.1:c.4693A>G
  • NM_001407668.1:c.4693A>G
  • NM_001407669.1:c.4693A>G
  • NM_001407670.1:c.4690A>G
  • NM_001407671.1:c.4690A>G
  • NM_001407672.1:c.4690A>G
  • NM_001407673.1:c.4690A>G
  • NM_001407674.1:c.4690A>G
  • NM_001407675.1:c.4690A>G
  • NM_001407676.1:c.4690A>G
  • NM_001407677.1:c.4690A>G
  • NM_001407678.1:c.4690A>G
  • NM_001407679.1:c.4690A>G
  • NM_001407680.1:c.4690A>G
  • NM_001407681.1:c.4687A>G
  • NM_001407682.1:c.4687A>G
  • NM_001407683.1:c.4687A>G
  • NM_001407684.1:c.4816A>G
  • NM_001407685.1:c.4687A>G
  • NM_001407686.1:c.4687A>G
  • NM_001407687.1:c.4687A>G
  • NM_001407688.1:c.4687A>G
  • NM_001407689.1:c.4687A>G
  • NM_001407690.1:c.4684A>G
  • NM_001407691.1:c.4684A>G
  • NM_001407692.1:c.4675A>G
  • NM_001407694.1:c.4675A>G
  • NM_001407695.1:c.4675A>G
  • NM_001407696.1:c.4675A>G
  • NM_001407697.1:c.4675A>G
  • NM_001407698.1:c.4675A>G
  • NM_001407724.1:c.4675A>G
  • NM_001407725.1:c.4675A>G
  • NM_001407726.1:c.4675A>G
  • NM_001407727.1:c.4675A>G
  • NM_001407728.1:c.4675A>G
  • NM_001407729.1:c.4675A>G
  • NM_001407730.1:c.4675A>G
  • NM_001407731.1:c.4675A>G
  • NM_001407732.1:c.4672A>G
  • NM_001407733.1:c.4672A>G
  • NM_001407734.1:c.4672A>G
  • NM_001407735.1:c.4672A>G
  • NM_001407736.1:c.4672A>G
  • NM_001407737.1:c.4672A>G
  • NM_001407738.1:c.4672A>G
  • NM_001407739.1:c.4672A>G
  • NM_001407740.1:c.4672A>G
  • NM_001407741.1:c.4672A>G
  • NM_001407742.1:c.4672A>G
  • NM_001407743.1:c.4672A>G
  • NM_001407744.1:c.4672A>G
  • NM_001407745.1:c.4672A>G
  • NM_001407746.1:c.4672A>G
  • NM_001407747.1:c.4672A>G
  • NM_001407748.1:c.4672A>G
  • NM_001407749.1:c.4672A>G
  • NM_001407750.1:c.4672A>G
  • NM_001407751.1:c.4672A>G
  • NM_001407752.1:c.4672A>G
  • NM_001407838.1:c.4669A>G
  • NM_001407839.1:c.4669A>G
  • NM_001407841.1:c.4669A>G
  • NM_001407842.1:c.4669A>G
  • NM_001407843.1:c.4669A>G
  • NM_001407844.1:c.4669A>G
  • NM_001407845.1:c.4669A>G
  • NM_001407846.1:c.4669A>G
  • NM_001407847.1:c.4669A>G
  • NM_001407848.1:c.4669A>G
  • NM_001407849.1:c.4669A>G
  • NM_001407850.1:c.4669A>G
  • NM_001407851.1:c.4669A>G
  • NM_001407852.1:c.4669A>G
  • NM_001407853.1:c.4669A>G
  • NM_001407854.1:c.4816A>G
  • NM_001407858.1:c.4813A>G
  • NM_001407859.1:c.4813A>G
  • NM_001407860.1:c.4813A>G
  • NM_001407861.1:c.4810A>G
  • NM_001407862.1:c.4615A>G
  • NM_001407863.1:c.4690A>G
  • NM_001407874.1:c.4609A>G
  • NM_001407875.1:c.4609A>G
  • NM_001407879.1:c.4606A>G
  • NM_001407881.1:c.4606A>G
  • NM_001407882.1:c.4606A>G
  • NM_001407884.1:c.4606A>G
  • NM_001407885.1:c.4606A>G
  • NM_001407886.1:c.4606A>G
  • NM_001407887.1:c.4606A>G
  • NM_001407889.1:c.4606A>G
  • NM_001407894.1:c.4603A>G
  • NM_001407895.1:c.4603A>G
  • NM_001407896.1:c.4603A>G
  • NM_001407897.1:c.4603A>G
  • NM_001407898.1:c.4603A>G
  • NM_001407899.1:c.4603A>G
  • NM_001407900.1:c.4603A>G
  • NM_001407902.1:c.4603A>G
  • NM_001407904.1:c.4603A>G
  • NM_001407906.1:c.4603A>G
  • NM_001407907.1:c.4603A>G
  • NM_001407908.1:c.4603A>G
  • NM_001407909.1:c.4603A>G
  • NM_001407910.1:c.4603A>G
  • NM_001407915.1:c.4600A>G
  • NM_001407916.1:c.4600A>G
  • NM_001407917.1:c.4600A>G
  • NM_001407918.1:c.4600A>G
  • NM_001407919.1:c.4693A>G
  • NM_001407920.1:c.4552A>G
  • NM_001407921.1:c.4552A>G
  • NM_001407922.1:c.4552A>G
  • NM_001407923.1:c.4552A>G
  • NM_001407924.1:c.4552A>G
  • NM_001407925.1:c.4552A>G
  • NM_001407926.1:c.4552A>G
  • NM_001407927.1:c.4549A>G
  • NM_001407928.1:c.4549A>G
  • NM_001407929.1:c.4549A>G
  • NM_001407930.1:c.4549A>G
  • NM_001407931.1:c.4549A>G
  • NM_001407932.1:c.4549A>G
  • NM_001407933.1:c.4549A>G
  • NM_001407934.1:c.4546A>G
  • NM_001407935.1:c.4546A>G
  • NM_001407936.1:c.4546A>G
  • NM_001407937.1:c.4693A>G
  • NM_001407938.1:c.4693A>G
  • NM_001407939.1:c.4690A>G
  • NM_001407940.1:c.4690A>G
  • NM_001407941.1:c.4687A>G
  • NM_001407942.1:c.4675A>G
  • NM_001407943.1:c.4672A>G
  • NM_001407944.1:c.4672A>G
  • NM_001407945.1:c.4672A>G
  • NM_001407946.1:c.4483A>G
  • NM_001407947.1:c.4483A>G
  • NM_001407948.1:c.4483A>G
  • NM_001407949.1:c.4483A>G
  • NM_001407950.1:c.4480A>G
  • NM_001407951.1:c.4480A>G
  • NM_001407952.1:c.4480A>G
  • NM_001407953.1:c.4480A>G
  • NM_001407954.1:c.4480A>G
  • NM_001407955.1:c.4480A>G
  • NM_001407956.1:c.4477A>G
  • NM_001407957.1:c.4477A>G
  • NM_001407958.1:c.4477A>G
  • NM_001407959.1:c.4435A>G
  • NM_001407960.1:c.4432A>G
  • NM_001407962.1:c.4432A>G
  • NM_001407963.1:c.4429A>G
  • NM_001407964.1:c.4354A>G
  • NM_001407965.1:c.4309A>G
  • NM_001407966.1:c.3928A>G
  • NM_001407967.1:c.3925A>G
  • NM_001407968.1:c.2212A>G
  • NM_001407969.1:c.2209A>G
  • NM_001407970.1:c.1573A>G
  • NM_001407971.1:c.1573A>G
  • NM_001407972.1:c.1570A>G
  • NM_001407973.1:c.1507A>G
  • NM_001407974.1:c.1507A>G
  • NM_001407975.1:c.1507A>G
  • NM_001407976.1:c.1507A>G
  • NM_001407977.1:c.1507A>G
  • NM_001407978.1:c.1507A>G
  • NM_001407979.1:c.1504A>G
  • NM_001407980.1:c.1504A>G
  • NM_001407981.1:c.1504A>G
  • NM_001407982.1:c.1504A>G
  • NM_001407983.1:c.1504A>G
  • NM_001407984.1:c.1504A>G
  • NM_001407985.1:c.1504A>G
  • NM_001407986.1:c.1504A>G
  • NM_001407990.1:c.1504A>G
  • NM_001407991.1:c.1504A>G
  • NM_001407992.1:c.1504A>G
  • NM_001407993.1:c.1504A>G
  • NM_001408392.1:c.1501A>G
  • NM_001408396.1:c.1501A>G
  • NM_001408397.1:c.1501A>G
  • NM_001408398.1:c.1501A>G
  • NM_001408399.1:c.1501A>G
  • NM_001408400.1:c.1501A>G
  • NM_001408401.1:c.1501A>G
  • NM_001408402.1:c.1501A>G
  • NM_001408403.1:c.1501A>G
  • NM_001408404.1:c.1501A>G
  • NM_001408406.1:c.1498A>G
  • NM_001408407.1:c.1498A>G
  • NM_001408408.1:c.1498A>G
  • NM_001408409.1:c.1495A>G
  • NM_001408410.1:c.1432A>G
  • NM_001408411.1:c.1429A>G
  • NM_001408412.1:c.1426A>G
  • NM_001408413.1:c.1426A>G
  • NM_001408414.1:c.1426A>G
  • NM_001408415.1:c.1426A>G
  • NM_001408416.1:c.1426A>G
  • NM_001408418.1:c.1390A>G
  • NM_001408419.1:c.1390A>G
  • NM_001408420.1:c.1390A>G
  • NM_001408421.1:c.1387A>G
  • NM_001408422.1:c.1387A>G
  • NM_001408423.1:c.1387A>G
  • NM_001408424.1:c.1387A>G
  • NM_001408425.1:c.1384A>G
  • NM_001408426.1:c.1384A>G
  • NM_001408427.1:c.1384A>G
  • NM_001408428.1:c.1384A>G
  • NM_001408429.1:c.1384A>G
  • NM_001408430.1:c.1384A>G
  • NM_001408431.1:c.1384A>G
  • NM_001408432.1:c.1381A>G
  • NM_001408433.1:c.1381A>G
  • NM_001408434.1:c.1381A>G
  • NM_001408435.1:c.1381A>G
  • NM_001408436.1:c.1381A>G
  • NM_001408437.1:c.1381A>G
  • NM_001408438.1:c.1381A>G
  • NM_001408439.1:c.1381A>G
  • NM_001408440.1:c.1381A>G
  • NM_001408441.1:c.1381A>G
  • NM_001408442.1:c.1381A>G
  • NM_001408443.1:c.1381A>G
  • NM_001408444.1:c.1381A>G
  • NM_001408445.1:c.1378A>G
  • NM_001408446.1:c.1378A>G
  • NM_001408447.1:c.1378A>G
  • NM_001408448.1:c.1378A>G
  • NM_001408450.1:c.1378A>G
  • NM_001408451.1:c.1372A>G
  • NM_001408452.1:c.1366A>G
  • NM_001408453.1:c.1366A>G
  • NM_001408454.1:c.1366A>G
  • NM_001408455.1:c.1366A>G
  • NM_001408456.1:c.1366A>G
  • NM_001408457.1:c.1366A>G
  • NM_001408458.1:c.1363A>G
  • NM_001408459.1:c.1363A>G
  • NM_001408460.1:c.1363A>G
  • NM_001408461.1:c.1363A>G
  • NM_001408462.1:c.1363A>G
  • NM_001408463.1:c.1363A>G
  • NM_001408464.1:c.1363A>G
  • NM_001408465.1:c.1363A>G
  • NM_001408466.1:c.1363A>G
  • NM_001408467.1:c.1363A>G
  • NM_001408468.1:c.1360A>G
  • NM_001408469.1:c.1360A>G
  • NM_001408470.1:c.1360A>G
  • NM_001408472.1:c.1504A>G
  • NM_001408473.1:c.1501A>G
  • NM_001408474.1:c.1306A>G
  • NM_001408475.1:c.1303A>G
  • NM_001408476.1:c.1303A>G
  • NM_001408478.1:c.1297A>G
  • NM_001408479.1:c.1297A>G
  • NM_001408480.1:c.1297A>G
  • NM_001408481.1:c.1294A>G
  • NM_001408482.1:c.1294A>G
  • NM_001408483.1:c.1294A>G
  • NM_001408484.1:c.1294A>G
  • NM_001408485.1:c.1294A>G
  • NM_001408489.1:c.1294A>G
  • NM_001408490.1:c.1294A>G
  • NM_001408491.1:c.1294A>G
  • NM_001408492.1:c.1291A>G
  • NM_001408493.1:c.1291A>G
  • NM_001408494.1:c.1267A>G
  • NM_001408495.1:c.1261A>G
  • NM_001408496.1:c.1243A>G
  • NM_001408497.1:c.1243A>G
  • NM_001408498.1:c.1243A>G
  • NM_001408499.1:c.1243A>G
  • NM_001408500.1:c.1243A>G
  • NM_001408501.1:c.1243A>G
  • NM_001408502.1:c.1240A>G
  • NM_001408503.1:c.1240A>G
  • NM_001408504.1:c.1240A>G
  • NM_001408505.1:c.1237A>G
  • NM_001408506.1:c.1180A>G
  • NM_001408507.1:c.1177A>G
  • NM_001408508.1:c.1168A>G
  • NM_001408509.1:c.1165A>G
  • NM_001408510.1:c.1126A>G
  • NM_001408511.1:c.1123A>G
  • NM_001408512.1:c.1003A>G
  • NM_001408513.1:c.976A>G
  • NM_007294.4:c.4816A>GMANE SELECT
  • NM_007297.4:c.4675A>G
  • NM_007298.4:c.1504A>G
  • NM_007299.4:c.1504A>G
  • NM_007300.4:c.4879A>G
  • NM_007304.2:c.1504A>G
  • NP_001394500.1:p.Lys1535Glu
  • NP_001394510.1:p.Lys1628Glu
  • NP_001394511.1:p.Lys1628Glu
  • NP_001394512.1:p.Lys1627Glu
  • NP_001394514.1:p.Lys1627Glu
  • NP_001394516.1:p.Lys1627Glu
  • NP_001394519.1:p.Lys1626Glu
  • NP_001394520.1:p.Lys1626Glu
  • NP_001394522.1:p.Lys1606Glu
  • NP_001394523.1:p.Lys1606Glu
  • NP_001394525.1:p.Lys1606Glu
  • NP_001394526.1:p.Lys1606Glu
  • NP_001394527.1:p.Lys1606Glu
  • NP_001394531.1:p.Lys1606Glu
  • NP_001394532.1:p.Lys1606Glu
  • NP_001394534.1:p.Lys1606Glu
  • NP_001394539.1:p.Lys1605Glu
  • NP_001394540.1:p.Lys1605Glu
  • NP_001394541.1:p.Lys1605Glu
  • NP_001394542.1:p.Lys1605Glu
  • NP_001394543.1:p.Lys1605Glu
  • NP_001394544.1:p.Lys1605Glu
  • NP_001394545.1:p.Lys1605Glu
  • NP_001394546.1:p.Lys1605Glu
  • NP_001394547.1:p.Lys1605Glu
  • NP_001394548.1:p.Lys1605Glu
  • NP_001394549.1:p.Lys1605Glu
  • NP_001394550.1:p.Lys1605Glu
  • NP_001394551.1:p.Lys1605Glu
  • NP_001394552.1:p.Lys1605Glu
  • NP_001394553.1:p.Lys1605Glu
  • NP_001394554.1:p.Lys1605Glu
  • NP_001394555.1:p.Lys1605Glu
  • NP_001394556.1:p.Lys1604Glu
  • NP_001394557.1:p.Lys1604Glu
  • NP_001394558.1:p.Lys1604Glu
  • NP_001394559.1:p.Lys1604Glu
  • NP_001394560.1:p.Lys1604Glu
  • NP_001394561.1:p.Lys1604Glu
  • NP_001394562.1:p.Lys1604Glu
  • NP_001394563.1:p.Lys1604Glu
  • NP_001394564.1:p.Lys1604Glu
  • NP_001394565.1:p.Lys1604Glu
  • NP_001394566.1:p.Lys1604Glu
  • NP_001394567.1:p.Lys1604Glu
  • NP_001394568.1:p.Lys1604Glu
  • NP_001394569.1:p.Lys1604Glu
  • NP_001394570.1:p.Lys1604Glu
  • NP_001394571.1:p.Lys1604Glu
  • NP_001394573.1:p.Lys1603Glu
  • NP_001394574.1:p.Lys1603Glu
  • NP_001394575.1:p.Lys1602Glu
  • NP_001394576.1:p.Lys1601Glu
  • NP_001394577.1:p.Lys1587Glu
  • NP_001394578.1:p.Lys1586Glu
  • NP_001394581.1:p.Lys1606Glu
  • NP_001394582.1:p.Lys1580Glu
  • NP_001394583.1:p.Lys1580Glu
  • NP_001394584.1:p.Lys1580Glu
  • NP_001394585.1:p.Lys1579Glu
  • NP_001394586.1:p.Lys1579Glu
  • NP_001394587.1:p.Lys1579Glu
  • NP_001394588.1:p.Lys1578Glu
  • NP_001394589.1:p.Lys1578Glu
  • NP_001394590.1:p.Lys1578Glu
  • NP_001394591.1:p.Lys1578Glu
  • NP_001394592.1:p.Lys1578Glu
  • NP_001394593.1:p.Lys1565Glu
  • NP_001394594.1:p.Lys1565Glu
  • NP_001394595.1:p.Lys1565Glu
  • NP_001394596.1:p.Lys1565Glu
  • NP_001394597.1:p.Lys1565Glu
  • NP_001394598.1:p.Lys1565Glu
  • NP_001394599.1:p.Lys1564Glu
  • NP_001394600.1:p.Lys1564Glu
  • NP_001394601.1:p.Lys1564Glu
  • NP_001394602.1:p.Lys1564Glu
  • NP_001394603.1:p.Lys1564Glu
  • NP_001394604.1:p.Lys1564Glu
  • NP_001394605.1:p.Lys1564Glu
  • NP_001394606.1:p.Lys1564Glu
  • NP_001394607.1:p.Lys1564Glu
  • NP_001394608.1:p.Lys1564Glu
  • NP_001394609.1:p.Lys1564Glu
  • NP_001394610.1:p.Lys1563Glu
  • NP_001394611.1:p.Lys1563Glu
  • NP_001394612.1:p.Lys1563Glu
  • NP_001394613.1:p.Lys1606Glu
  • NP_001394614.1:p.Lys1563Glu
  • NP_001394615.1:p.Lys1563Glu
  • NP_001394616.1:p.Lys1563Glu
  • NP_001394617.1:p.Lys1563Glu
  • NP_001394618.1:p.Lys1563Glu
  • NP_001394619.1:p.Lys1562Glu
  • NP_001394620.1:p.Lys1562Glu
  • NP_001394621.1:p.Lys1559Glu
  • NP_001394623.1:p.Lys1559Glu
  • NP_001394624.1:p.Lys1559Glu
  • NP_001394625.1:p.Lys1559Glu
  • NP_001394626.1:p.Lys1559Glu
  • NP_001394627.1:p.Lys1559Glu
  • NP_001394653.1:p.Lys1559Glu
  • NP_001394654.1:p.Lys1559Glu
  • NP_001394655.1:p.Lys1559Glu
  • NP_001394656.1:p.Lys1559Glu
  • NP_001394657.1:p.Lys1559Glu
  • NP_001394658.1:p.Lys1559Glu
  • NP_001394659.1:p.Lys1559Glu
  • NP_001394660.1:p.Lys1559Glu
  • NP_001394661.1:p.Lys1558Glu
  • NP_001394662.1:p.Lys1558Glu
  • NP_001394663.1:p.Lys1558Glu
  • NP_001394664.1:p.Lys1558Glu
  • NP_001394665.1:p.Lys1558Glu
  • NP_001394666.1:p.Lys1558Glu
  • NP_001394667.1:p.Lys1558Glu
  • NP_001394668.1:p.Lys1558Glu
  • NP_001394669.1:p.Lys1558Glu
  • NP_001394670.1:p.Lys1558Glu
  • NP_001394671.1:p.Lys1558Glu
  • NP_001394672.1:p.Lys1558Glu
  • NP_001394673.1:p.Lys1558Glu
  • NP_001394674.1:p.Lys1558Glu
  • NP_001394675.1:p.Lys1558Glu
  • NP_001394676.1:p.Lys1558Glu
  • NP_001394677.1:p.Lys1558Glu
  • NP_001394678.1:p.Lys1558Glu
  • NP_001394679.1:p.Lys1558Glu
  • NP_001394680.1:p.Lys1558Glu
  • NP_001394681.1:p.Lys1558Glu
  • NP_001394767.1:p.Lys1557Glu
  • NP_001394768.1:p.Lys1557Glu
  • NP_001394770.1:p.Lys1557Glu
  • NP_001394771.1:p.Lys1557Glu
  • NP_001394772.1:p.Lys1557Glu
  • NP_001394773.1:p.Lys1557Glu
  • NP_001394774.1:p.Lys1557Glu
  • NP_001394775.1:p.Lys1557Glu
  • NP_001394776.1:p.Lys1557Glu
  • NP_001394777.1:p.Lys1557Glu
  • NP_001394778.1:p.Lys1557Glu
  • NP_001394779.1:p.Lys1557Glu
  • NP_001394780.1:p.Lys1557Glu
  • NP_001394781.1:p.Lys1557Glu
  • NP_001394782.1:p.Lys1557Glu
  • NP_001394783.1:p.Lys1606Glu
  • NP_001394787.1:p.Lys1605Glu
  • NP_001394788.1:p.Lys1605Glu
  • NP_001394789.1:p.Lys1605Glu
  • NP_001394790.1:p.Lys1604Glu
  • NP_001394791.1:p.Lys1539Glu
  • NP_001394792.1:p.Lys1564Glu
  • NP_001394803.1:p.Lys1537Glu
  • NP_001394804.1:p.Lys1537Glu
  • NP_001394808.1:p.Lys1536Glu
  • NP_001394810.1:p.Lys1536Glu
  • NP_001394811.1:p.Lys1536Glu
  • NP_001394813.1:p.Lys1536Glu
  • NP_001394814.1:p.Lys1536Glu
  • NP_001394815.1:p.Lys1536Glu
  • NP_001394816.1:p.Lys1536Glu
  • NP_001394818.1:p.Lys1536Glu
  • NP_001394823.1:p.Lys1535Glu
  • NP_001394824.1:p.Lys1535Glu
  • NP_001394825.1:p.Lys1535Glu
  • NP_001394826.1:p.Lys1535Glu
  • NP_001394827.1:p.Lys1535Glu
  • NP_001394828.1:p.Lys1535Glu
  • NP_001394829.1:p.Lys1535Glu
  • NP_001394831.1:p.Lys1535Glu
  • NP_001394833.1:p.Lys1535Glu
  • NP_001394835.1:p.Lys1535Glu
  • NP_001394836.1:p.Lys1535Glu
  • NP_001394837.1:p.Lys1535Glu
  • NP_001394838.1:p.Lys1535Glu
  • NP_001394839.1:p.Lys1535Glu
  • NP_001394844.1:p.Lys1534Glu
  • NP_001394845.1:p.Lys1534Glu
  • NP_001394846.1:p.Lys1534Glu
  • NP_001394847.1:p.Lys1534Glu
  • NP_001394848.1:p.Lys1565Glu
  • NP_001394849.1:p.Lys1518Glu
  • NP_001394850.1:p.Lys1518Glu
  • NP_001394851.1:p.Lys1518Glu
  • NP_001394852.1:p.Lys1518Glu
  • NP_001394853.1:p.Lys1518Glu
  • NP_001394854.1:p.Lys1518Glu
  • NP_001394855.1:p.Lys1518Glu
  • NP_001394856.1:p.Lys1517Glu
  • NP_001394857.1:p.Lys1517Glu
  • NP_001394858.1:p.Lys1517Glu
  • NP_001394859.1:p.Lys1517Glu
  • NP_001394860.1:p.Lys1517Glu
  • NP_001394861.1:p.Lys1517Glu
  • NP_001394862.1:p.Lys1517Glu
  • NP_001394863.1:p.Lys1516Glu
  • NP_001394864.1:p.Lys1516Glu
  • NP_001394865.1:p.Lys1516Glu
  • NP_001394866.1:p.Lys1565Glu
  • NP_001394867.1:p.Lys1565Glu
  • NP_001394868.1:p.Lys1564Glu
  • NP_001394869.1:p.Lys1564Glu
  • NP_001394870.1:p.Lys1563Glu
  • NP_001394871.1:p.Lys1559Glu
  • NP_001394872.1:p.Lys1558Glu
  • NP_001394873.1:p.Lys1558Glu
  • NP_001394874.1:p.Lys1558Glu
  • NP_001394875.1:p.Lys1495Glu
  • NP_001394876.1:p.Lys1495Glu
  • NP_001394877.1:p.Lys1495Glu
  • NP_001394878.1:p.Lys1495Glu
  • NP_001394879.1:p.Lys1494Glu
  • NP_001394880.1:p.Lys1494Glu
  • NP_001394881.1:p.Lys1494Glu
  • NP_001394882.1:p.Lys1494Glu
  • NP_001394883.1:p.Lys1494Glu
  • NP_001394884.1:p.Lys1494Glu
  • NP_001394885.1:p.Lys1493Glu
  • NP_001394886.1:p.Lys1493Glu
  • NP_001394887.1:p.Lys1493Glu
  • NP_001394888.1:p.Lys1479Glu
  • NP_001394889.1:p.Lys1478Glu
  • NP_001394891.1:p.Lys1478Glu
  • NP_001394892.1:p.Lys1477Glu
  • NP_001394893.1:p.Lys1452Glu
  • NP_001394894.1:p.Lys1437Glu
  • NP_001394895.1:p.Lys1310Glu
  • NP_001394896.1:p.Lys1309Glu
  • NP_001394897.1:p.Lys738Glu
  • NP_001394898.1:p.Lys737Glu
  • NP_001394899.1:p.Lys525Glu
  • NP_001394900.1:p.Lys525Glu
  • NP_001394901.1:p.Lys524Glu
  • NP_001394902.1:p.Lys503Glu
  • NP_001394903.1:p.Lys503Glu
  • NP_001394904.1:p.Lys503Glu
  • NP_001394905.1:p.Lys503Glu
  • NP_001394906.1:p.Lys503Glu
  • NP_001394907.1:p.Lys503Glu
  • NP_001394908.1:p.Lys502Glu
  • NP_001394909.1:p.Lys502Glu
  • NP_001394910.1:p.Lys502Glu
  • NP_001394911.1:p.Lys502Glu
  • NP_001394912.1:p.Lys502Glu
  • NP_001394913.1:p.Lys502Glu
  • NP_001394914.1:p.Lys502Glu
  • NP_001394915.1:p.Lys502Glu
  • NP_001394919.1:p.Lys502Glu
  • NP_001394920.1:p.Lys502Glu
  • NP_001394921.1:p.Lys502Glu
  • NP_001394922.1:p.Lys502Glu
  • NP_001395321.1:p.Lys501Glu
  • NP_001395325.1:p.Lys501Glu
  • NP_001395326.1:p.Lys501Glu
  • NP_001395327.1:p.Lys501Glu
  • NP_001395328.1:p.Lys501Glu
  • NP_001395329.1:p.Lys501Glu
  • NP_001395330.1:p.Lys501Glu
  • NP_001395331.1:p.Lys501Glu
  • NP_001395332.1:p.Lys501Glu
  • NP_001395333.1:p.Lys501Glu
  • NP_001395335.1:p.Lys500Glu
  • NP_001395336.1:p.Lys500Glu
  • NP_001395337.1:p.Lys500Glu
  • NP_001395338.1:p.Lys499Glu
  • NP_001395339.1:p.Lys478Glu
  • NP_001395340.1:p.Lys477Glu
  • NP_001395341.1:p.Lys476Glu
  • NP_001395342.1:p.Lys476Glu
  • NP_001395343.1:p.Lys476Glu
  • NP_001395344.1:p.Lys476Glu
  • NP_001395345.1:p.Lys476Glu
  • NP_001395347.1:p.Lys464Glu
  • NP_001395348.1:p.Lys464Glu
  • NP_001395349.1:p.Lys464Glu
  • NP_001395350.1:p.Lys463Glu
  • NP_001395351.1:p.Lys463Glu
  • NP_001395352.1:p.Lys463Glu
  • NP_001395353.1:p.Lys463Glu
  • NP_001395354.1:p.Lys462Glu
  • NP_001395355.1:p.Lys462Glu
  • NP_001395356.1:p.Lys462Glu
  • NP_001395357.1:p.Lys462Glu
  • NP_001395358.1:p.Lys462Glu
  • NP_001395359.1:p.Lys462Glu
  • NP_001395360.1:p.Lys462Glu
  • NP_001395361.1:p.Lys461Glu
  • NP_001395362.1:p.Lys461Glu
  • NP_001395363.1:p.Lys461Glu
  • NP_001395364.1:p.Lys461Glu
  • NP_001395365.1:p.Lys461Glu
  • NP_001395366.1:p.Lys461Glu
  • NP_001395367.1:p.Lys461Glu
  • NP_001395368.1:p.Lys461Glu
  • NP_001395369.1:p.Lys461Glu
  • NP_001395370.1:p.Lys461Glu
  • NP_001395371.1:p.Lys461Glu
  • NP_001395372.1:p.Lys461Glu
  • NP_001395373.1:p.Lys461Glu
  • NP_001395374.1:p.Lys460Glu
  • NP_001395375.1:p.Lys460Glu
  • NP_001395376.1:p.Lys460Glu
  • NP_001395377.1:p.Lys460Glu
  • NP_001395379.1:p.Lys460Glu
  • NP_001395380.1:p.Lys458Glu
  • NP_001395381.1:p.Lys456Glu
  • NP_001395382.1:p.Lys456Glu
  • NP_001395383.1:p.Lys456Glu
  • NP_001395384.1:p.Lys456Glu
  • NP_001395385.1:p.Lys456Glu
  • NP_001395386.1:p.Lys456Glu
  • NP_001395387.1:p.Lys455Glu
  • NP_001395388.1:p.Lys455Glu
  • NP_001395389.1:p.Lys455Glu
  • NP_001395390.1:p.Lys455Glu
  • NP_001395391.1:p.Lys455Glu
  • NP_001395392.1:p.Lys455Glu
  • NP_001395393.1:p.Lys455Glu
  • NP_001395394.1:p.Lys455Glu
  • NP_001395395.1:p.Lys455Glu
  • NP_001395396.1:p.Lys455Glu
  • NP_001395397.1:p.Lys454Glu
  • NP_001395398.1:p.Lys454Glu
  • NP_001395399.1:p.Lys454Glu
  • NP_001395401.1:p.Lys502Glu
  • NP_001395402.1:p.Lys501Glu
  • NP_001395403.1:p.Lys436Glu
  • NP_001395404.1:p.Lys435Glu
  • NP_001395405.1:p.Lys435Glu
  • NP_001395407.1:p.Lys433Glu
  • NP_001395408.1:p.Lys433Glu
  • NP_001395409.1:p.Lys433Glu
  • NP_001395410.1:p.Lys432Glu
  • NP_001395411.1:p.Lys432Glu
  • NP_001395412.1:p.Lys432Glu
  • NP_001395413.1:p.Lys432Glu
  • NP_001395414.1:p.Lys432Glu
  • NP_001395418.1:p.Lys432Glu
  • NP_001395419.1:p.Lys432Glu
  • NP_001395420.1:p.Lys432Glu
  • NP_001395421.1:p.Lys431Glu
  • NP_001395422.1:p.Lys431Glu
  • NP_001395423.1:p.Lys423Glu
  • NP_001395424.1:p.Lys421Glu
  • NP_001395425.1:p.Lys415Glu
  • NP_001395426.1:p.Lys415Glu
  • NP_001395427.1:p.Lys415Glu
  • NP_001395428.1:p.Lys415Glu
  • NP_001395429.1:p.Lys415Glu
  • NP_001395430.1:p.Lys415Glu
  • NP_001395431.1:p.Lys414Glu
  • NP_001395432.1:p.Lys414Glu
  • NP_001395433.1:p.Lys414Glu
  • NP_001395434.1:p.Lys413Glu
  • NP_001395435.1:p.Lys394Glu
  • NP_001395436.1:p.Lys393Glu
  • NP_001395437.1:p.Lys390Glu
  • NP_001395438.1:p.Lys389Glu
  • NP_001395439.1:p.Lys376Glu
  • NP_001395440.1:p.Lys375Glu
  • NP_001395441.1:p.Lys335Glu
  • NP_001395442.1:p.Lys326Glu
  • NP_009225.1:p.Lys1606Glu
  • NP_009225.1:p.Lys1606Glu
  • NP_009228.2:p.Lys1559Glu
  • NP_009229.2:p.Lys502Glu
  • NP_009229.2:p.Lys502Glu
  • NP_009230.2:p.Lys502Glu
  • NP_009231.2:p.Lys1627Glu
  • NP_009235.2:p.Lys502Glu
  • LRG_292t1:c.4816A>G
  • LRG_292:g.146886A>G
  • LRG_292p1:p.Lys1606Glu
  • NC_000017.10:g.41223115T>C
  • NM_007294.3:c.4816A>G
  • NM_007298.3:c.1504A>G
  • NR_027676.2:n.4993A>G
  • P38398:p.Lys1606Glu
  • U14680.1:n.4935A>G
  • p.K1606E
Nucleotide change:
4935A>G
Protein change:
K1309E
Links:
UniProtKB: P38398#VAR_007790; dbSNP: rs80356943
NCBI 1000 Genomes Browser:
rs80356943
Molecular consequence:
  • NM_001407571.1:c.4603A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407581.1:c.4882A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407582.1:c.4882A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407583.1:c.4879A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407585.1:c.4879A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407587.1:c.4879A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407590.1:c.4876A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407591.1:c.4876A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407593.1:c.4816A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407594.1:c.4816A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407596.1:c.4816A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407597.1:c.4816A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407598.1:c.4816A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407602.1:c.4816A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407603.1:c.4816A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407605.1:c.4816A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407610.1:c.4813A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407611.1:c.4813A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407612.1:c.4813A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407613.1:c.4813A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407614.1:c.4813A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407615.1:c.4813A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407616.1:c.4813A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407617.1:c.4813A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407618.1:c.4813A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407619.1:c.4813A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407620.1:c.4813A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407621.1:c.4813A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407622.1:c.4813A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407623.1:c.4813A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407624.1:c.4813A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407625.1:c.4813A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407626.1:c.4813A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407627.1:c.4810A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407628.1:c.4810A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407629.1:c.4810A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407630.1:c.4810A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407631.1:c.4810A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407632.1:c.4810A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407633.1:c.4810A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407634.1:c.4810A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407635.1:c.4810A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407636.1:c.4810A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407637.1:c.4810A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407638.1:c.4810A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407639.1:c.4810A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407640.1:c.4810A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407641.1:c.4810A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407642.1:c.4810A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407644.1:c.4807A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407645.1:c.4807A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407646.1:c.4804A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407647.1:c.4801A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407648.1:c.4759A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407649.1:c.4756A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407652.1:c.4816A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407653.1:c.4738A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407654.1:c.4738A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407655.1:c.4738A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407656.1:c.4735A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407657.1:c.4735A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407658.1:c.4735A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407659.1:c.4732A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407660.1:c.4732A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407661.1:c.4732A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407662.1:c.4732A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407663.1:c.4732A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407664.1:c.4693A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407665.1:c.4693A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407666.1:c.4693A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407667.1:c.4693A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407668.1:c.4693A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407669.1:c.4693A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407670.1:c.4690A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407671.1:c.4690A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407672.1:c.4690A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407673.1:c.4690A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407674.1:c.4690A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407675.1:c.4690A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407676.1:c.4690A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407677.1:c.4690A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407678.1:c.4690A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407679.1:c.4690A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407680.1:c.4690A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407681.1:c.4687A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407682.1:c.4687A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407683.1:c.4687A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407684.1:c.4816A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407685.1:c.4687A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407686.1:c.4687A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407687.1:c.4687A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407688.1:c.4687A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407689.1:c.4687A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407690.1:c.4684A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407691.1:c.4684A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407692.1:c.4675A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407694.1:c.4675A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407695.1:c.4675A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407696.1:c.4675A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407697.1:c.4675A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407698.1:c.4675A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407724.1:c.4675A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407725.1:c.4675A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407726.1:c.4675A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407727.1:c.4675A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407728.1:c.4675A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407729.1:c.4675A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407730.1:c.4675A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407731.1:c.4675A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407732.1:c.4672A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407733.1:c.4672A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407734.1:c.4672A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407735.1:c.4672A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407736.1:c.4672A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407737.1:c.4672A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407738.1:c.4672A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407739.1:c.4672A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407740.1:c.4672A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407741.1:c.4672A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407742.1:c.4672A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407743.1:c.4672A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407744.1:c.4672A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407745.1:c.4672A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407746.1:c.4672A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407747.1:c.4672A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407748.1:c.4672A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407749.1:c.4672A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407750.1:c.4672A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407751.1:c.4672A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407752.1:c.4672A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407838.1:c.4669A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407839.1:c.4669A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407841.1:c.4669A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407842.1:c.4669A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407843.1:c.4669A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407844.1:c.4669A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407845.1:c.4669A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407846.1:c.4669A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407847.1:c.4669A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407848.1:c.4669A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407849.1:c.4669A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407850.1:c.4669A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407851.1:c.4669A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407852.1:c.4669A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407853.1:c.4669A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407854.1:c.4816A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407858.1:c.4813A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407859.1:c.4813A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407860.1:c.4813A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407861.1:c.4810A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407862.1:c.4615A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407863.1:c.4690A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407874.1:c.4609A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407875.1:c.4609A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407879.1:c.4606A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407881.1:c.4606A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407882.1:c.4606A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407884.1:c.4606A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407885.1:c.4606A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407886.1:c.4606A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407887.1:c.4606A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407889.1:c.4606A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407894.1:c.4603A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407895.1:c.4603A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407896.1:c.4603A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407897.1:c.4603A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407898.1:c.4603A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407899.1:c.4603A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407900.1:c.4603A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407902.1:c.4603A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407904.1:c.4603A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407906.1:c.4603A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407907.1:c.4603A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407908.1:c.4603A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407909.1:c.4603A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407910.1:c.4603A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407915.1:c.4600A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407916.1:c.4600A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407917.1:c.4600A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407918.1:c.4600A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407919.1:c.4693A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407920.1:c.4552A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407921.1:c.4552A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407922.1:c.4552A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407923.1:c.4552A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407924.1:c.4552A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407925.1:c.4552A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407926.1:c.4552A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407927.1:c.4549A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407928.1:c.4549A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407929.1:c.4549A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407930.1:c.4549A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407931.1:c.4549A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407932.1:c.4549A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407933.1:c.4549A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407934.1:c.4546A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407935.1:c.4546A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407936.1:c.4546A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407937.1:c.4693A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407938.1:c.4693A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407939.1:c.4690A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407940.1:c.4690A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407941.1:c.4687A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407942.1:c.4675A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407943.1:c.4672A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407944.1:c.4672A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407945.1:c.4672A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407946.1:c.4483A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407947.1:c.4483A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407948.1:c.4483A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407949.1:c.4483A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407950.1:c.4480A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407951.1:c.4480A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407952.1:c.4480A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407953.1:c.4480A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407954.1:c.4480A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407955.1:c.4480A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407956.1:c.4477A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407957.1:c.4477A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407958.1:c.4477A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407959.1:c.4435A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407960.1:c.4432A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407962.1:c.4432A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407963.1:c.4429A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407964.1:c.4354A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407965.1:c.4309A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407966.1:c.3928A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407967.1:c.3925A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407968.1:c.2212A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407969.1:c.2209A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407970.1:c.1573A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407971.1:c.1573A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407972.1:c.1570A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407973.1:c.1507A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407974.1:c.1507A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407975.1:c.1507A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407976.1:c.1507A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407977.1:c.1507A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407978.1:c.1507A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407979.1:c.1504A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407980.1:c.1504A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407981.1:c.1504A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407982.1:c.1504A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407983.1:c.1504A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407984.1:c.1504A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407985.1:c.1504A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407986.1:c.1504A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407990.1:c.1504A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407991.1:c.1504A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407992.1:c.1504A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407993.1:c.1504A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408392.1:c.1501A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408396.1:c.1501A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408397.1:c.1501A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408398.1:c.1501A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408399.1:c.1501A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408400.1:c.1501A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408401.1:c.1501A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408402.1:c.1501A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408403.1:c.1501A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408404.1:c.1501A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408406.1:c.1498A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408407.1:c.1498A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408408.1:c.1498A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408409.1:c.1495A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408410.1:c.1432A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408411.1:c.1429A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408412.1:c.1426A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408413.1:c.1426A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408414.1:c.1426A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408415.1:c.1426A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408416.1:c.1426A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408418.1:c.1390A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408419.1:c.1390A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408420.1:c.1390A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408421.1:c.1387A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408422.1:c.1387A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408423.1:c.1387A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408424.1:c.1387A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408425.1:c.1384A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408426.1:c.1384A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408427.1:c.1384A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408428.1:c.1384A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408429.1:c.1384A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408430.1:c.1384A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408431.1:c.1384A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408432.1:c.1381A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408433.1:c.1381A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408434.1:c.1381A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408435.1:c.1381A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408436.1:c.1381A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408437.1:c.1381A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408438.1:c.1381A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408439.1:c.1381A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408440.1:c.1381A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408441.1:c.1381A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408442.1:c.1381A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408443.1:c.1381A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408444.1:c.1381A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408445.1:c.1378A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408446.1:c.1378A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408447.1:c.1378A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408448.1:c.1378A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408450.1:c.1378A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408451.1:c.1372A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408452.1:c.1366A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408453.1:c.1366A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408454.1:c.1366A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408455.1:c.1366A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408456.1:c.1366A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408457.1:c.1366A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408458.1:c.1363A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408459.1:c.1363A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408460.1:c.1363A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408461.1:c.1363A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408462.1:c.1363A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408463.1:c.1363A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408464.1:c.1363A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408465.1:c.1363A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408466.1:c.1363A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408467.1:c.1363A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408468.1:c.1360A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408469.1:c.1360A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408470.1:c.1360A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408472.1:c.1504A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408473.1:c.1501A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408474.1:c.1306A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408475.1:c.1303A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408476.1:c.1303A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408478.1:c.1297A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408479.1:c.1297A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408480.1:c.1297A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408481.1:c.1294A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408482.1:c.1294A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408483.1:c.1294A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408484.1:c.1294A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408485.1:c.1294A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408489.1:c.1294A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408490.1:c.1294A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408491.1:c.1294A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408492.1:c.1291A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408493.1:c.1291A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408494.1:c.1267A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408495.1:c.1261A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408496.1:c.1243A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408497.1:c.1243A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408498.1:c.1243A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408499.1:c.1243A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408500.1:c.1243A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408501.1:c.1243A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408502.1:c.1240A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408503.1:c.1240A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408504.1:c.1240A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408505.1:c.1237A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408506.1:c.1180A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408507.1:c.1177A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408508.1:c.1168A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408509.1:c.1165A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408510.1:c.1126A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408511.1:c.1123A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408512.1:c.1003A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408513.1:c.976A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007294.4:c.4816A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007297.4:c.4675A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007298.4:c.1504A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007299.4:c.1504A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007300.4:c.4879A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007304.2:c.1504A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NR_027676.2:n.4993A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

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

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000184830Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Likely benign
(May 10, 2021) 		germlineclinical testing

PubMed (4)
[See all records that cite these PMIDs]

Citation Link,

SCV000903167Color Diagnostics, LLC DBA Color Health
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely benign
(Mar 22, 2017) 		germlineclinical testing

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

SCV002537786Sema4, Sema4
criteria provided, single submitter

(Sema4 Curation Guidelines)		Likely benign
(Feb 1, 2021) 		germlinecuration

Citation Link

Help

Summary from all submissions

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

Citations

PubMed

Evaluation of BRCA1 and BRCA2 mutation prevalence, risk prediction models and a multistep testing approach in French-Canadian families with high risk of breast and ovarian cancer.

Simard J, Dumont M, Moisan AM, Gaborieau V, Malouin H, Durocher F, Chiquette J, Plante M, Avard D, Bessette P, Brousseau C, Dorval M, Godard B, Houde L; INHERIT BRCAs, Joly Y, Lajoie MA, Leblanc G, Lépine J, Lespérance B, Vézina H, Parboosingh J, et al.

J Med Genet. 2007 Feb;44(2):107-21. Epub 2006 Aug 11. Erratum in: J Med Genet. 2007 Jul;44(7):471.

PubMed [citation]
PMID:
16905680
PMCID:
PMC2598057

Functional assays provide a robust tool for the clinical annotation of genetic variants of uncertain significance.

Woods NT, Baskin R, Golubeva V, Jhuraney A, De-Gregoriis G, Vaclova T, Goldgar DE, Couch FJ, Carvalho MA, Iversen ES, Monteiro AN.

NPJ Genom Med. 2016;1:16001-. doi: 10.1038/npjgenmed.2016.1. Epub 2016 Mar 2.

PubMed [citation]
PMID:
28781887
PMCID:
PMC5539989
See all PubMed Citations (5)

Details of each submission

From Ambry Genetics, SCV000184830.8

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (4)

Description

This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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

From Color Diagnostics, LLC DBA Color Health, SCV000903167.1

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

From Sema4, Sema4, SCV002537786.1

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

Last Updated: Nov 24, 2024