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NM_007294.4(BRCA1):c.1233T>G (p.Asp411Glu) AND Hereditary cancer-predisposing syndrome

Germline classification:
Benign/Likely benign (3 submissions)
Last evaluated:
Dec 7, 2020
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:
RCV000130781.10

Allele description [Variation Report for NM_007294.4(BRCA1):c.1233T>G (p.Asp411Glu)]

NM_007294.4(BRCA1):c.1233T>G (p.Asp411Glu)

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.1233T>G (p.Asp411Glu)
Other names:
NM_007294.4(BRCA1):c.1233T>G
HGVS:
  • NC_000017.11:g.43094298A>C
  • NG_005905.2:g.123686T>G
  • NM_001407571.1:c.1020T>G
  • NM_001407581.1:c.1233T>G
  • NM_001407582.1:c.1233T>G
  • NM_001407583.1:c.1233T>G
  • NM_001407585.1:c.1233T>G
  • NM_001407587.1:c.1230T>G
  • NM_001407590.1:c.1230T>G
  • NM_001407591.1:c.1230T>G
  • NM_001407593.1:c.1233T>G
  • NM_001407594.1:c.1233T>G
  • NM_001407596.1:c.1233T>G
  • NM_001407597.1:c.1233T>G
  • NM_001407598.1:c.1233T>G
  • NM_001407602.1:c.1233T>G
  • NM_001407603.1:c.1233T>G
  • NM_001407605.1:c.1233T>G
  • NM_001407610.1:c.1230T>G
  • NM_001407611.1:c.1230T>G
  • NM_001407612.1:c.1230T>G
  • NM_001407613.1:c.1230T>G
  • NM_001407614.1:c.1230T>G
  • NM_001407615.1:c.1230T>G
  • NM_001407616.1:c.1233T>G
  • NM_001407617.1:c.1233T>G
  • NM_001407618.1:c.1233T>G
  • NM_001407619.1:c.1233T>G
  • NM_001407620.1:c.1233T>G
  • NM_001407621.1:c.1233T>G
  • NM_001407622.1:c.1233T>G
  • NM_001407623.1:c.1233T>G
  • NM_001407624.1:c.1233T>G
  • NM_001407625.1:c.1233T>G
  • NM_001407626.1:c.1233T>G
  • NM_001407627.1:c.1230T>G
  • NM_001407628.1:c.1230T>G
  • NM_001407629.1:c.1230T>G
  • NM_001407630.1:c.1230T>G
  • NM_001407631.1:c.1230T>G
  • NM_001407632.1:c.1230T>G
  • NM_001407633.1:c.1230T>G
  • NM_001407634.1:c.1230T>G
  • NM_001407635.1:c.1230T>G
  • NM_001407636.1:c.1230T>G
  • NM_001407637.1:c.1230T>G
  • NM_001407638.1:c.1230T>G
  • NM_001407639.1:c.1233T>G
  • NM_001407640.1:c.1233T>G
  • NM_001407641.1:c.1233T>G
  • NM_001407642.1:c.1233T>G
  • NM_001407644.1:c.1230T>G
  • NM_001407645.1:c.1230T>G
  • NM_001407646.1:c.1224T>G
  • NM_001407647.1:c.1224T>G
  • NM_001407648.1:c.1110T>G
  • NM_001407649.1:c.1107T>G
  • NM_001407652.1:c.1233T>G
  • NM_001407653.1:c.1155T>G
  • NM_001407654.1:c.1155T>G
  • NM_001407655.1:c.1155T>G
  • NM_001407656.1:c.1155T>G
  • NM_001407657.1:c.1155T>G
  • NM_001407658.1:c.1155T>G
  • NM_001407659.1:c.1152T>G
  • NM_001407660.1:c.1152T>G
  • NM_001407661.1:c.1152T>G
  • NM_001407662.1:c.1152T>G
  • NM_001407663.1:c.1155T>G
  • NM_001407664.1:c.1110T>G
  • NM_001407665.1:c.1110T>G
  • NM_001407666.1:c.1110T>G
  • NM_001407667.1:c.1110T>G
  • NM_001407668.1:c.1110T>G
  • NM_001407669.1:c.1110T>G
  • NM_001407670.1:c.1107T>G
  • NM_001407671.1:c.1107T>G
  • NM_001407672.1:c.1107T>G
  • NM_001407673.1:c.1107T>G
  • NM_001407674.1:c.1110T>G
  • NM_001407675.1:c.1110T>G
  • NM_001407676.1:c.1110T>G
  • NM_001407677.1:c.1110T>G
  • NM_001407678.1:c.1110T>G
  • NM_001407679.1:c.1110T>G
  • NM_001407680.1:c.1110T>G
  • NM_001407681.1:c.1110T>G
  • NM_001407682.1:c.1110T>G
  • NM_001407683.1:c.1110T>G
  • NM_001407684.1:c.1233T>G
  • NM_001407685.1:c.1107T>G
  • NM_001407686.1:c.1107T>G
  • NM_001407687.1:c.1107T>G
  • NM_001407688.1:c.1107T>G
  • NM_001407689.1:c.1107T>G
  • NM_001407690.1:c.1107T>G
  • NM_001407691.1:c.1107T>G
  • NM_001407692.1:c.1092T>G
  • NM_001407694.1:c.1092T>G
  • NM_001407695.1:c.1092T>G
  • NM_001407696.1:c.1092T>G
  • NM_001407697.1:c.1092T>G
  • NM_001407698.1:c.1092T>G
  • NM_001407724.1:c.1092T>G
  • NM_001407725.1:c.1092T>G
  • NM_001407726.1:c.1092T>G
  • NM_001407727.1:c.1092T>G
  • NM_001407728.1:c.1092T>G
  • NM_001407729.1:c.1092T>G
  • NM_001407730.1:c.1092T>G
  • NM_001407731.1:c.1092T>G
  • NM_001407732.1:c.1092T>G
  • NM_001407733.1:c.1092T>G
  • NM_001407734.1:c.1092T>G
  • NM_001407735.1:c.1092T>G
  • NM_001407736.1:c.1092T>G
  • NM_001407737.1:c.1092T>G
  • NM_001407738.1:c.1092T>G
  • NM_001407739.1:c.1092T>G
  • NM_001407740.1:c.1089T>G
  • NM_001407741.1:c.1089T>G
  • NM_001407742.1:c.1089T>G
  • NM_001407743.1:c.1089T>G
  • NM_001407744.1:c.1089T>G
  • NM_001407745.1:c.1089T>G
  • NM_001407746.1:c.1089T>G
  • NM_001407747.1:c.1089T>G
  • NM_001407748.1:c.1089T>G
  • NM_001407749.1:c.1089T>G
  • NM_001407750.1:c.1092T>G
  • NM_001407751.1:c.1092T>G
  • NM_001407752.1:c.1092T>G
  • NM_001407838.1:c.1089T>G
  • NM_001407839.1:c.1089T>G
  • NM_001407841.1:c.1089T>G
  • NM_001407842.1:c.1089T>G
  • NM_001407843.1:c.1089T>G
  • NM_001407844.1:c.1089T>G
  • NM_001407845.1:c.1089T>G
  • NM_001407846.1:c.1089T>G
  • NM_001407847.1:c.1089T>G
  • NM_001407848.1:c.1089T>G
  • NM_001407849.1:c.1089T>G
  • NM_001407850.1:c.1092T>G
  • NM_001407851.1:c.1092T>G
  • NM_001407852.1:c.1092T>G
  • NM_001407853.1:c.1020T>G
  • NM_001407854.1:c.1233T>G
  • NM_001407858.1:c.1233T>G
  • NM_001407859.1:c.1233T>G
  • NM_001407860.1:c.1230T>G
  • NM_001407861.1:c.1230T>G
  • NM_001407862.1:c.1032T>G
  • NM_001407863.1:c.1110T>G
  • NM_001407874.1:c.1029T>G
  • NM_001407875.1:c.1029T>G
  • NM_001407879.1:c.1023T>G
  • NM_001407881.1:c.1023T>G
  • NM_001407882.1:c.1023T>G
  • NM_001407884.1:c.1023T>G
  • NM_001407885.1:c.1023T>G
  • NM_001407886.1:c.1023T>G
  • NM_001407887.1:c.1023T>G
  • NM_001407889.1:c.1023T>G
  • NM_001407894.1:c.1020T>G
  • NM_001407895.1:c.1020T>G
  • NM_001407896.1:c.1020T>G
  • NM_001407897.1:c.1020T>G
  • NM_001407898.1:c.1020T>G
  • NM_001407899.1:c.1020T>G
  • NM_001407900.1:c.1023T>G
  • NM_001407902.1:c.1023T>G
  • NM_001407904.1:c.1023T>G
  • NM_001407906.1:c.1023T>G
  • NM_001407907.1:c.1023T>G
  • NM_001407908.1:c.1023T>G
  • NM_001407909.1:c.1023T>G
  • NM_001407910.1:c.1023T>G
  • NM_001407915.1:c.1020T>G
  • NM_001407916.1:c.1020T>G
  • NM_001407917.1:c.1020T>G
  • NM_001407918.1:c.1020T>G
  • NM_001407919.1:c.1110T>G
  • NM_001407920.1:c.969T>G
  • NM_001407921.1:c.969T>G
  • NM_001407922.1:c.969T>G
  • NM_001407923.1:c.969T>G
  • NM_001407924.1:c.969T>G
  • NM_001407925.1:c.969T>G
  • NM_001407926.1:c.969T>G
  • NM_001407927.1:c.969T>G
  • NM_001407928.1:c.969T>G
  • NM_001407929.1:c.969T>G
  • NM_001407930.1:c.966T>G
  • NM_001407931.1:c.966T>G
  • NM_001407932.1:c.966T>G
  • NM_001407933.1:c.969T>G
  • NM_001407934.1:c.966T>G
  • NM_001407935.1:c.969T>G
  • NM_001407936.1:c.966T>G
  • NM_001407937.1:c.1110T>G
  • NM_001407938.1:c.1110T>G
  • NM_001407939.1:c.1110T>G
  • NM_001407940.1:c.1107T>G
  • NM_001407941.1:c.1107T>G
  • NM_001407942.1:c.1092T>G
  • NM_001407943.1:c.1089T>G
  • NM_001407944.1:c.1092T>G
  • NM_001407945.1:c.1092T>G
  • NM_001407946.1:c.900T>G
  • NM_001407947.1:c.900T>G
  • NM_001407948.1:c.900T>G
  • NM_001407949.1:c.900T>G
  • NM_001407950.1:c.900T>G
  • NM_001407951.1:c.900T>G
  • NM_001407952.1:c.900T>G
  • NM_001407953.1:c.900T>G
  • NM_001407954.1:c.897T>G
  • NM_001407955.1:c.897T>G
  • NM_001407956.1:c.897T>G
  • NM_001407957.1:c.900T>G
  • NM_001407958.1:c.897T>G
  • NM_001407959.1:c.852T>G
  • NM_001407960.1:c.852T>G
  • NM_001407962.1:c.849T>G
  • NM_001407963.1:c.852T>G
  • NM_001407964.1:c.1089T>G
  • NM_001407965.1:c.729T>G
  • NM_001407966.1:c.345T>G
  • NM_001407967.1:c.345T>G
  • NM_001407968.1:c.787+446T>G
  • NM_001407969.1:c.787+446T>G
  • NM_001407970.1:c.787+446T>G
  • NM_001407971.1:c.787+446T>G
  • NM_001407972.1:c.784+446T>G
  • NM_001407973.1:c.787+446T>G
  • NM_001407974.1:c.787+446T>G
  • NM_001407975.1:c.787+446T>G
  • NM_001407976.1:c.787+446T>G
  • NM_001407977.1:c.787+446T>G
  • NM_001407978.1:c.787+446T>G
  • NM_001407979.1:c.787+446T>G
  • NM_001407980.1:c.787+446T>G
  • NM_001407981.1:c.787+446T>G
  • NM_001407982.1:c.787+446T>G
  • NM_001407983.1:c.787+446T>G
  • NM_001407984.1:c.784+446T>G
  • NM_001407985.1:c.784+446T>G
  • NM_001407986.1:c.784+446T>G
  • NM_001407990.1:c.787+446T>G
  • NM_001407991.1:c.784+446T>G
  • NM_001407992.1:c.784+446T>G
  • NM_001407993.1:c.787+446T>G
  • NM_001408392.1:c.784+446T>G
  • NM_001408396.1:c.784+446T>G
  • NM_001408397.1:c.784+446T>G
  • NM_001408398.1:c.784+446T>G
  • NM_001408399.1:c.784+446T>G
  • NM_001408400.1:c.784+446T>G
  • NM_001408401.1:c.784+446T>G
  • NM_001408402.1:c.784+446T>G
  • NM_001408403.1:c.787+446T>G
  • NM_001408404.1:c.787+446T>G
  • NM_001408406.1:c.790+443T>G
  • NM_001408407.1:c.784+446T>G
  • NM_001408408.1:c.778+446T>G
  • NM_001408409.1:c.709+446T>G
  • NM_001408410.1:c.646+446T>G
  • NM_001408411.1:c.709+446T>G
  • NM_001408412.1:c.709+446T>G
  • NM_001408413.1:c.706+446T>G
  • NM_001408414.1:c.709+446T>G
  • NM_001408415.1:c.709+446T>G
  • NM_001408416.1:c.706+446T>G
  • NM_001408418.1:c.670+1548T>G
  • NM_001408419.1:c.670+1548T>G
  • NM_001408420.1:c.670+1548T>G
  • NM_001408421.1:c.667+1548T>G
  • NM_001408422.1:c.670+1548T>G
  • NM_001408423.1:c.670+1548T>G
  • NM_001408424.1:c.667+1548T>G
  • NM_001408425.1:c.664+446T>G
  • NM_001408426.1:c.664+446T>G
  • NM_001408427.1:c.664+446T>G
  • NM_001408428.1:c.664+446T>G
  • NM_001408429.1:c.664+446T>G
  • NM_001408430.1:c.664+446T>G
  • NM_001408431.1:c.667+1548T>G
  • NM_001408432.1:c.661+446T>G
  • NM_001408433.1:c.661+446T>G
  • NM_001408434.1:c.661+446T>G
  • NM_001408435.1:c.661+446T>G
  • NM_001408436.1:c.664+446T>G
  • NM_001408437.1:c.664+446T>G
  • NM_001408438.1:c.664+446T>G
  • NM_001408439.1:c.664+446T>G
  • NM_001408440.1:c.664+446T>G
  • NM_001408441.1:c.664+446T>G
  • NM_001408442.1:c.664+446T>G
  • NM_001408443.1:c.664+446T>G
  • NM_001408444.1:c.664+446T>G
  • NM_001408445.1:c.661+446T>G
  • NM_001408446.1:c.661+446T>G
  • NM_001408447.1:c.661+446T>G
  • NM_001408448.1:c.661+446T>G
  • NM_001408450.1:c.661+446T>G
  • NM_001408451.1:c.652+446T>G
  • NM_001408452.1:c.646+446T>G
  • NM_001408453.1:c.646+446T>G
  • NM_001408454.1:c.646+446T>G
  • NM_001408455.1:c.646+446T>G
  • NM_001408456.1:c.646+446T>G
  • NM_001408457.1:c.646+446T>G
  • NM_001408458.1:c.646+446T>G
  • NM_001408459.1:c.646+446T>G
  • NM_001408460.1:c.646+446T>G
  • NM_001408461.1:c.646+446T>G
  • NM_001408462.1:c.643+446T>G
  • NM_001408463.1:c.643+446T>G
  • NM_001408464.1:c.643+446T>G
  • NM_001408465.1:c.643+446T>G
  • NM_001408466.1:c.646+446T>G
  • NM_001408467.1:c.646+446T>G
  • NM_001408468.1:c.643+446T>G
  • NM_001408469.1:c.646+446T>G
  • NM_001408470.1:c.643+446T>G
  • NM_001408472.1:c.787+446T>G
  • NM_001408473.1:c.784+446T>G
  • NM_001408474.1:c.586+446T>G
  • NM_001408475.1:c.583+446T>G
  • NM_001408476.1:c.586+446T>G
  • NM_001408478.1:c.577+446T>G
  • NM_001408479.1:c.577+446T>G
  • NM_001408480.1:c.577+446T>G
  • NM_001408481.1:c.577+446T>G
  • NM_001408482.1:c.577+446T>G
  • NM_001408483.1:c.577+446T>G
  • NM_001408484.1:c.577+446T>G
  • NM_001408485.1:c.577+446T>G
  • NM_001408489.1:c.577+446T>G
  • NM_001408490.1:c.574+446T>G
  • NM_001408491.1:c.574+446T>G
  • NM_001408492.1:c.577+446T>G
  • NM_001408493.1:c.574+446T>G
  • NM_001408494.1:c.548-3266T>G
  • NM_001408495.1:c.545-3266T>G
  • NM_001408496.1:c.523+446T>G
  • NM_001408497.1:c.523+446T>G
  • NM_001408498.1:c.523+446T>G
  • NM_001408499.1:c.523+446T>G
  • NM_001408500.1:c.523+446T>G
  • NM_001408501.1:c.523+446T>G
  • NM_001408502.1:c.454+446T>G
  • NM_001408503.1:c.520+446T>G
  • NM_001408504.1:c.520+446T>G
  • NM_001408505.1:c.520+446T>G
  • NM_001408506.1:c.460+1548T>G
  • NM_001408507.1:c.460+1548T>G
  • NM_001408508.1:c.451+446T>G
  • NM_001408509.1:c.451+446T>G
  • NM_001408510.1:c.406+446T>G
  • NM_001408511.1:c.404-3266T>G
  • NM_001408512.1:c.283+446T>G
  • NM_001408513.1:c.577+446T>G
  • NM_001408514.1:c.577+446T>G
  • NM_007294.4:c.1233T>GMANE SELECT
  • NM_007297.4:c.1092T>G
  • NM_007298.4:c.787+446T>G
  • NM_007299.4:c.787+446T>G
  • NM_007300.4:c.1233T>G
  • NP_001394500.1:p.Asp340Glu
  • NP_001394510.1:p.Asp411Glu
  • NP_001394511.1:p.Asp411Glu
  • NP_001394512.1:p.Asp411Glu
  • NP_001394514.1:p.Asp411Glu
  • NP_001394516.1:p.Asp410Glu
  • NP_001394519.1:p.Asp410Glu
  • NP_001394520.1:p.Asp410Glu
  • NP_001394522.1:p.Asp411Glu
  • NP_001394523.1:p.Asp411Glu
  • NP_001394525.1:p.Asp411Glu
  • NP_001394526.1:p.Asp411Glu
  • NP_001394527.1:p.Asp411Glu
  • NP_001394531.1:p.Asp411Glu
  • NP_001394532.1:p.Asp411Glu
  • NP_001394534.1:p.Asp411Glu
  • NP_001394539.1:p.Asp410Glu
  • NP_001394540.1:p.Asp410Glu
  • NP_001394541.1:p.Asp410Glu
  • NP_001394542.1:p.Asp410Glu
  • NP_001394543.1:p.Asp410Glu
  • NP_001394544.1:p.Asp410Glu
  • NP_001394545.1:p.Asp411Glu
  • NP_001394546.1:p.Asp411Glu
  • NP_001394547.1:p.Asp411Glu
  • NP_001394548.1:p.Asp411Glu
  • NP_001394549.1:p.Asp411Glu
  • NP_001394550.1:p.Asp411Glu
  • NP_001394551.1:p.Asp411Glu
  • NP_001394552.1:p.Asp411Glu
  • NP_001394553.1:p.Asp411Glu
  • NP_001394554.1:p.Asp411Glu
  • NP_001394555.1:p.Asp411Glu
  • NP_001394556.1:p.Asp410Glu
  • NP_001394557.1:p.Asp410Glu
  • NP_001394558.1:p.Asp410Glu
  • NP_001394559.1:p.Asp410Glu
  • NP_001394560.1:p.Asp410Glu
  • NP_001394561.1:p.Asp410Glu
  • NP_001394562.1:p.Asp410Glu
  • NP_001394563.1:p.Asp410Glu
  • NP_001394564.1:p.Asp410Glu
  • NP_001394565.1:p.Asp410Glu
  • NP_001394566.1:p.Asp410Glu
  • NP_001394567.1:p.Asp410Glu
  • NP_001394568.1:p.Asp411Glu
  • NP_001394569.1:p.Asp411Glu
  • NP_001394570.1:p.Asp411Glu
  • NP_001394571.1:p.Asp411Glu
  • NP_001394573.1:p.Asp410Glu
  • NP_001394574.1:p.Asp410Glu
  • NP_001394575.1:p.Asp408Glu
  • NP_001394576.1:p.Asp408Glu
  • NP_001394577.1:p.Asp370Glu
  • NP_001394578.1:p.Asp369Glu
  • NP_001394581.1:p.Asp411Glu
  • NP_001394582.1:p.Asp385Glu
  • NP_001394583.1:p.Asp385Glu
  • NP_001394584.1:p.Asp385Glu
  • NP_001394585.1:p.Asp385Glu
  • NP_001394586.1:p.Asp385Glu
  • NP_001394587.1:p.Asp385Glu
  • NP_001394588.1:p.Asp384Glu
  • NP_001394589.1:p.Asp384Glu
  • NP_001394590.1:p.Asp384Glu
  • NP_001394591.1:p.Asp384Glu
  • NP_001394592.1:p.Asp385Glu
  • NP_001394593.1:p.Asp370Glu
  • NP_001394594.1:p.Asp370Glu
  • NP_001394595.1:p.Asp370Glu
  • NP_001394596.1:p.Asp370Glu
  • NP_001394597.1:p.Asp370Glu
  • NP_001394598.1:p.Asp370Glu
  • NP_001394599.1:p.Asp369Glu
  • NP_001394600.1:p.Asp369Glu
  • NP_001394601.1:p.Asp369Glu
  • NP_001394602.1:p.Asp369Glu
  • NP_001394603.1:p.Asp370Glu
  • NP_001394604.1:p.Asp370Glu
  • NP_001394605.1:p.Asp370Glu
  • NP_001394606.1:p.Asp370Glu
  • NP_001394607.1:p.Asp370Glu
  • NP_001394608.1:p.Asp370Glu
  • NP_001394609.1:p.Asp370Glu
  • NP_001394610.1:p.Asp370Glu
  • NP_001394611.1:p.Asp370Glu
  • NP_001394612.1:p.Asp370Glu
  • NP_001394613.1:p.Asp411Glu
  • NP_001394614.1:p.Asp369Glu
  • NP_001394615.1:p.Asp369Glu
  • NP_001394616.1:p.Asp369Glu
  • NP_001394617.1:p.Asp369Glu
  • NP_001394618.1:p.Asp369Glu
  • NP_001394619.1:p.Asp369Glu
  • NP_001394620.1:p.Asp369Glu
  • NP_001394621.1:p.Asp364Glu
  • NP_001394623.1:p.Asp364Glu
  • NP_001394624.1:p.Asp364Glu
  • NP_001394625.1:p.Asp364Glu
  • NP_001394626.1:p.Asp364Glu
  • NP_001394627.1:p.Asp364Glu
  • NP_001394653.1:p.Asp364Glu
  • NP_001394654.1:p.Asp364Glu
  • NP_001394655.1:p.Asp364Glu
  • NP_001394656.1:p.Asp364Glu
  • NP_001394657.1:p.Asp364Glu
  • NP_001394658.1:p.Asp364Glu
  • NP_001394659.1:p.Asp364Glu
  • NP_001394660.1:p.Asp364Glu
  • NP_001394661.1:p.Asp364Glu
  • NP_001394662.1:p.Asp364Glu
  • NP_001394663.1:p.Asp364Glu
  • NP_001394664.1:p.Asp364Glu
  • NP_001394665.1:p.Asp364Glu
  • NP_001394666.1:p.Asp364Glu
  • NP_001394667.1:p.Asp364Glu
  • NP_001394668.1:p.Asp364Glu
  • NP_001394669.1:p.Asp363Glu
  • NP_001394670.1:p.Asp363Glu
  • NP_001394671.1:p.Asp363Glu
  • NP_001394672.1:p.Asp363Glu
  • NP_001394673.1:p.Asp363Glu
  • NP_001394674.1:p.Asp363Glu
  • NP_001394675.1:p.Asp363Glu
  • NP_001394676.1:p.Asp363Glu
  • NP_001394677.1:p.Asp363Glu
  • NP_001394678.1:p.Asp363Glu
  • NP_001394679.1:p.Asp364Glu
  • NP_001394680.1:p.Asp364Glu
  • NP_001394681.1:p.Asp364Glu
  • NP_001394767.1:p.Asp363Glu
  • NP_001394768.1:p.Asp363Glu
  • NP_001394770.1:p.Asp363Glu
  • NP_001394771.1:p.Asp363Glu
  • NP_001394772.1:p.Asp363Glu
  • NP_001394773.1:p.Asp363Glu
  • NP_001394774.1:p.Asp363Glu
  • NP_001394775.1:p.Asp363Glu
  • NP_001394776.1:p.Asp363Glu
  • NP_001394777.1:p.Asp363Glu
  • NP_001394778.1:p.Asp363Glu
  • NP_001394779.1:p.Asp364Glu
  • NP_001394780.1:p.Asp364Glu
  • NP_001394781.1:p.Asp364Glu
  • NP_001394782.1:p.Asp340Glu
  • NP_001394783.1:p.Asp411Glu
  • NP_001394787.1:p.Asp411Glu
  • NP_001394788.1:p.Asp411Glu
  • NP_001394789.1:p.Asp410Glu
  • NP_001394790.1:p.Asp410Glu
  • NP_001394791.1:p.Asp344Glu
  • NP_001394792.1:p.Asp370Glu
  • NP_001394803.1:p.Asp343Glu
  • NP_001394804.1:p.Asp343Glu
  • NP_001394808.1:p.Asp341Glu
  • NP_001394810.1:p.Asp341Glu
  • NP_001394811.1:p.Asp341Glu
  • NP_001394813.1:p.Asp341Glu
  • NP_001394814.1:p.Asp341Glu
  • NP_001394815.1:p.Asp341Glu
  • NP_001394816.1:p.Asp341Glu
  • NP_001394818.1:p.Asp341Glu
  • NP_001394823.1:p.Asp340Glu
  • NP_001394824.1:p.Asp340Glu
  • NP_001394825.1:p.Asp340Glu
  • NP_001394826.1:p.Asp340Glu
  • NP_001394827.1:p.Asp340Glu
  • NP_001394828.1:p.Asp340Glu
  • NP_001394829.1:p.Asp341Glu
  • NP_001394831.1:p.Asp341Glu
  • NP_001394833.1:p.Asp341Glu
  • NP_001394835.1:p.Asp341Glu
  • NP_001394836.1:p.Asp341Glu
  • NP_001394837.1:p.Asp341Glu
  • NP_001394838.1:p.Asp341Glu
  • NP_001394839.1:p.Asp341Glu
  • NP_001394844.1:p.Asp340Glu
  • NP_001394845.1:p.Asp340Glu
  • NP_001394846.1:p.Asp340Glu
  • NP_001394847.1:p.Asp340Glu
  • NP_001394848.1:p.Asp370Glu
  • NP_001394849.1:p.Asp323Glu
  • NP_001394850.1:p.Asp323Glu
  • NP_001394851.1:p.Asp323Glu
  • NP_001394852.1:p.Asp323Glu
  • NP_001394853.1:p.Asp323Glu
  • NP_001394854.1:p.Asp323Glu
  • NP_001394855.1:p.Asp323Glu
  • NP_001394856.1:p.Asp323Glu
  • NP_001394857.1:p.Asp323Glu
  • NP_001394858.1:p.Asp323Glu
  • NP_001394859.1:p.Asp322Glu
  • NP_001394860.1:p.Asp322Glu
  • NP_001394861.1:p.Asp322Glu
  • NP_001394862.1:p.Asp323Glu
  • NP_001394863.1:p.Asp322Glu
  • NP_001394864.1:p.Asp323Glu
  • NP_001394865.1:p.Asp322Glu
  • NP_001394866.1:p.Asp370Glu
  • NP_001394867.1:p.Asp370Glu
  • NP_001394868.1:p.Asp370Glu
  • NP_001394869.1:p.Asp369Glu
  • NP_001394870.1:p.Asp369Glu
  • NP_001394871.1:p.Asp364Glu
  • NP_001394872.1:p.Asp363Glu
  • NP_001394873.1:p.Asp364Glu
  • NP_001394874.1:p.Asp364Glu
  • NP_001394875.1:p.Asp300Glu
  • NP_001394876.1:p.Asp300Glu
  • NP_001394877.1:p.Asp300Glu
  • NP_001394878.1:p.Asp300Glu
  • NP_001394879.1:p.Asp300Glu
  • NP_001394880.1:p.Asp300Glu
  • NP_001394881.1:p.Asp300Glu
  • NP_001394882.1:p.Asp300Glu
  • NP_001394883.1:p.Asp299Glu
  • NP_001394884.1:p.Asp299Glu
  • NP_001394885.1:p.Asp299Glu
  • NP_001394886.1:p.Asp300Glu
  • NP_001394887.1:p.Asp299Glu
  • NP_001394888.1:p.Asp284Glu
  • NP_001394889.1:p.Asp284Glu
  • NP_001394891.1:p.Asp283Glu
  • NP_001394892.1:p.Asp284Glu
  • NP_001394893.1:p.Asp363Glu
  • NP_001394894.1:p.Asp243Glu
  • NP_001394895.1:p.Asp115Glu
  • NP_001394896.1:p.Asp115Glu
  • NP_009225.1:p.Asp411Glu
  • NP_009225.1:p.Asp411Glu
  • NP_009228.2:p.Asp364Glu
  • NP_009231.2:p.Asp411Glu
  • LRG_292t1:c.1233T>G
  • LRG_292:g.123686T>G
  • LRG_292p1:p.Asp411Glu
  • NC_000017.10:g.41246315A>C
  • NM_007294.3:c.1233T>G
  • NR_027676.1:n.1369T>G
  • U14680.1:n.1352T>G
  • p.D411E
Nucleotide change:
1352T>G
Protein change:
D115E
Links:
dbSNP: rs80357024
NCBI 1000 Genomes Browser:
rs80357024
Molecular consequence:
  • NM_001407968.1:c.787+446T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407969.1:c.787+446T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407970.1:c.787+446T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407971.1:c.787+446T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407972.1:c.784+446T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407973.1:c.787+446T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407974.1:c.787+446T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407975.1:c.787+446T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407976.1:c.787+446T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407977.1:c.787+446T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407978.1:c.787+446T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407979.1:c.787+446T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407980.1:c.787+446T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407981.1:c.787+446T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407982.1:c.787+446T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407983.1:c.787+446T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407984.1:c.784+446T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407985.1:c.784+446T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407986.1:c.784+446T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407990.1:c.787+446T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407991.1:c.784+446T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407992.1:c.784+446T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407993.1:c.787+446T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408392.1:c.784+446T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408396.1:c.784+446T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408397.1:c.784+446T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408398.1:c.784+446T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408399.1:c.784+446T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408400.1:c.784+446T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408401.1:c.784+446T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408402.1:c.784+446T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408403.1:c.787+446T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408404.1:c.787+446T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408406.1:c.790+443T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408407.1:c.784+446T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408408.1:c.778+446T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408409.1:c.709+446T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408410.1:c.646+446T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408411.1:c.709+446T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408412.1:c.709+446T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408413.1:c.706+446T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408414.1:c.709+446T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408415.1:c.709+446T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408416.1:c.706+446T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408418.1:c.670+1548T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408419.1:c.670+1548T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408420.1:c.670+1548T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408421.1:c.667+1548T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408422.1:c.670+1548T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408423.1:c.670+1548T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408424.1:c.667+1548T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408425.1:c.664+446T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408426.1:c.664+446T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408427.1:c.664+446T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408428.1:c.664+446T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408429.1:c.664+446T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408430.1:c.664+446T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408431.1:c.667+1548T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408432.1:c.661+446T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408433.1:c.661+446T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408434.1:c.661+446T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408435.1:c.661+446T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408436.1:c.664+446T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408437.1:c.664+446T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408438.1:c.664+446T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408439.1:c.664+446T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408440.1:c.664+446T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408441.1:c.664+446T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408442.1:c.664+446T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408443.1:c.664+446T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408444.1:c.664+446T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408445.1:c.661+446T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408446.1:c.661+446T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408447.1:c.661+446T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408448.1:c.661+446T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408450.1:c.661+446T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408451.1:c.652+446T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408452.1:c.646+446T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408453.1:c.646+446T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408454.1:c.646+446T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408455.1:c.646+446T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408456.1:c.646+446T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408457.1:c.646+446T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408458.1:c.646+446T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408459.1:c.646+446T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408460.1:c.646+446T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408461.1:c.646+446T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408462.1:c.643+446T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408463.1:c.643+446T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408464.1:c.643+446T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408465.1:c.643+446T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408466.1:c.646+446T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408467.1:c.646+446T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408468.1:c.643+446T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408469.1:c.646+446T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408470.1:c.643+446T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408472.1:c.787+446T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408473.1:c.784+446T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408474.1:c.586+446T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408475.1:c.583+446T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408476.1:c.586+446T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408478.1:c.577+446T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408479.1:c.577+446T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408480.1:c.577+446T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408481.1:c.577+446T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408482.1:c.577+446T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408483.1:c.577+446T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408484.1:c.577+446T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408485.1:c.577+446T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408489.1:c.577+446T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408490.1:c.574+446T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408491.1:c.574+446T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408492.1:c.577+446T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408493.1:c.574+446T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408494.1:c.548-3266T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408495.1:c.545-3266T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408496.1:c.523+446T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408497.1:c.523+446T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408498.1:c.523+446T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408499.1:c.523+446T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408500.1:c.523+446T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408501.1:c.523+446T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408502.1:c.454+446T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408503.1:c.520+446T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408504.1:c.520+446T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408505.1:c.520+446T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408506.1:c.460+1548T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408507.1:c.460+1548T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408508.1:c.451+446T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408509.1:c.451+446T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408510.1:c.406+446T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408511.1:c.404-3266T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408512.1:c.283+446T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408513.1:c.577+446T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408514.1:c.577+446T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007298.4:c.787+446T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007299.4:c.787+446T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407571.1:c.1020T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407581.1:c.1233T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407582.1:c.1233T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407583.1:c.1233T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407585.1:c.1233T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407587.1:c.1230T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407590.1:c.1230T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407591.1:c.1230T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407593.1:c.1233T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407594.1:c.1233T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407596.1:c.1233T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407597.1:c.1233T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407598.1:c.1233T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407602.1:c.1233T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407603.1:c.1233T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407605.1:c.1233T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407610.1:c.1230T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407611.1:c.1230T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407612.1:c.1230T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407613.1:c.1230T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407614.1:c.1230T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407615.1:c.1230T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407616.1:c.1233T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407617.1:c.1233T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407618.1:c.1233T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407619.1:c.1233T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407620.1:c.1233T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407621.1:c.1233T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407622.1:c.1233T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407623.1:c.1233T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407624.1:c.1233T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407625.1:c.1233T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407626.1:c.1233T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407627.1:c.1230T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407628.1:c.1230T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407629.1:c.1230T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407630.1:c.1230T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407631.1:c.1230T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407632.1:c.1230T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407633.1:c.1230T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407634.1:c.1230T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407635.1:c.1230T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407636.1:c.1230T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407637.1:c.1230T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407638.1:c.1230T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407639.1:c.1233T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407640.1:c.1233T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407641.1:c.1233T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407642.1:c.1233T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407644.1:c.1230T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407645.1:c.1230T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407646.1:c.1224T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407647.1:c.1224T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407648.1:c.1110T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407649.1:c.1107T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407652.1:c.1233T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407653.1:c.1155T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407654.1:c.1155T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407655.1:c.1155T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407656.1:c.1155T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407657.1:c.1155T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407658.1:c.1155T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407659.1:c.1152T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407660.1:c.1152T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407661.1:c.1152T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407662.1:c.1152T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407663.1:c.1155T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407664.1:c.1110T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407665.1:c.1110T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407666.1:c.1110T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407667.1:c.1110T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407668.1:c.1110T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407669.1:c.1110T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407670.1:c.1107T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407671.1:c.1107T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407672.1:c.1107T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407673.1:c.1107T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407674.1:c.1110T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407675.1:c.1110T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407676.1:c.1110T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407677.1:c.1110T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407678.1:c.1110T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407679.1:c.1110T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407680.1:c.1110T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407681.1:c.1110T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407682.1:c.1110T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407683.1:c.1110T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407684.1:c.1233T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407685.1:c.1107T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407686.1:c.1107T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407687.1:c.1107T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407688.1:c.1107T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407689.1:c.1107T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407690.1:c.1107T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407691.1:c.1107T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407692.1:c.1092T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407694.1:c.1092T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407695.1:c.1092T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407696.1:c.1092T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407697.1:c.1092T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407698.1:c.1092T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407724.1:c.1092T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407725.1:c.1092T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407726.1:c.1092T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407727.1:c.1092T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407728.1:c.1092T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407729.1:c.1092T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407730.1:c.1092T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407731.1:c.1092T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407732.1:c.1092T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407733.1:c.1092T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407734.1:c.1092T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407735.1:c.1092T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407736.1:c.1092T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407737.1:c.1092T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407738.1:c.1092T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407739.1:c.1092T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407740.1:c.1089T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407741.1:c.1089T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407742.1:c.1089T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407743.1:c.1089T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407744.1:c.1089T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407745.1:c.1089T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407746.1:c.1089T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407747.1:c.1089T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407748.1:c.1089T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407749.1:c.1089T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407750.1:c.1092T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407751.1:c.1092T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407752.1:c.1092T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407838.1:c.1089T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407839.1:c.1089T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407841.1:c.1089T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407842.1:c.1089T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407843.1:c.1089T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407844.1:c.1089T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407845.1:c.1089T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407846.1:c.1089T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407847.1:c.1089T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407848.1:c.1089T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407849.1:c.1089T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407850.1:c.1092T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407851.1:c.1092T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407852.1:c.1092T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407853.1:c.1020T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407854.1:c.1233T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407858.1:c.1233T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407859.1:c.1233T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407860.1:c.1230T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407861.1:c.1230T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407862.1:c.1032T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407863.1:c.1110T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407874.1:c.1029T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407875.1:c.1029T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407879.1:c.1023T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407881.1:c.1023T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407882.1:c.1023T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407884.1:c.1023T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407885.1:c.1023T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407886.1:c.1023T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407887.1:c.1023T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407889.1:c.1023T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407894.1:c.1020T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407895.1:c.1020T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407896.1:c.1020T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407897.1:c.1020T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407898.1:c.1020T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407899.1:c.1020T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407900.1:c.1023T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407902.1:c.1023T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407904.1:c.1023T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407906.1:c.1023T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407907.1:c.1023T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407908.1:c.1023T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407909.1:c.1023T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407910.1:c.1023T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407915.1:c.1020T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407916.1:c.1020T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407917.1:c.1020T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407918.1:c.1020T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407919.1:c.1110T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407920.1:c.969T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407921.1:c.969T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407922.1:c.969T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407923.1:c.969T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407924.1:c.969T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407925.1:c.969T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407926.1:c.969T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407927.1:c.969T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407928.1:c.969T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407929.1:c.969T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407930.1:c.966T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407931.1:c.966T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407932.1:c.966T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407933.1:c.969T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407934.1:c.966T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407935.1:c.969T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407936.1:c.966T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407937.1:c.1110T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407938.1:c.1110T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407939.1:c.1110T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407940.1:c.1107T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407941.1:c.1107T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407942.1:c.1092T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407943.1:c.1089T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407944.1:c.1092T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407945.1:c.1092T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407946.1:c.900T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407947.1:c.900T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407948.1:c.900T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407949.1:c.900T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407950.1:c.900T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407951.1:c.900T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407952.1:c.900T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407953.1:c.900T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407954.1:c.897T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407955.1:c.897T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407956.1:c.897T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407957.1:c.900T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407958.1:c.897T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407959.1:c.852T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407960.1:c.852T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407962.1:c.849T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407963.1:c.852T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407964.1:c.1089T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407965.1:c.729T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407966.1:c.345T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407967.1:c.345T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007294.4:c.1233T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007297.4:c.1092T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007300.4:c.1233T>G - missense variant - [Sequence Ontology: SO:0001583]

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

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000185674Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)
Likely benign
(Dec 10, 2018)
germlineclinical testing

PubMed (2)
[See all records that cite these PMIDs]

Citation Link,

SCV000903235Color Diagnostics, LLC DBA Color Health
criteria provided, single submitter

(ACMG Guidelines, 2015)
Benign
(Dec 10, 2015)
germlineclinical testing

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

SCV002538005Sema4, Sema4
criteria provided, single submitter

(Sema4 Curation Guidelines)
Likely benign
(Dec 7, 2020)
germlinecuration

Citation Link

Summary from all submissions

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

Citations

PubMed

Analysis of missense variation in human BRCA1 in the context of interspecific sequence variation.

Abkevich V, Zharkikh A, Deffenbaugh AM, Frank D, Chen Y, Shattuck D, Skolnick MH, Gutin A, Tavtigian SV.

J Med Genet. 2004 Jul;41(7):492-507.

PubMed [citation]
PMID:
15235020
PMCID:
PMC1735826

Natural selection and mammalian BRCA1 sequences: elucidating functionally important sites relevant to breast cancer susceptibility in humans.

Burk-Herrick A, Scally M, Amrine-Madsen H, Stanhope MJ, Springer MS.

Mamm Genome. 2006 Mar;17(3):257-70. Epub 2006 Mar 3.

PubMed [citation]
PMID:
16518693
See all PubMed Citations (3)

Details of each submission

From Ambry Genetics, SCV000185674.7

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (2)

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, SCV000903235.1

#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, SCV002538005.1

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

Last Updated: Jul 15, 2024