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NM_007294.4(BRCA1):c.1233T>G (p.Asp411Glu) AND Breast-ovarian cancer, familial, susceptibility to, 1

Germline classification:
Benign (3 submissions)
Last evaluated:
Feb 5, 2024
Review status:
3 stars out of maximum of 4 stars
reviewed by expert panel
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:
RCV000083166.11

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]
Observations:
14

Condition(s)

Name:
Breast-ovarian cancer, familial, susceptibility to, 1 (BROVCA1)
Synonyms:
OVARIAN CANCER, SUSCEPTIBILITY TO; Breast-ovarian cancer, familial 1; Breast cancer, familial 1
Identifiers:
MONDO: MONDO:0011450; MedGen: C2676676; Orphanet: 145; OMIM: 604370

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000115240Sharing Clinical Reports Project (SCRP)
no assertion criteria provided
Benign
(May 1, 2012)
germlineclinical testing

SCV000144035Breast Cancer Information Core (BIC) (BRCA1)
no assertion criteria provided
Uncertain significance
(May 29, 2002)
germlineclinical testing

SCV004818359All of Us Research Program, National Institutes of Health
criteria provided, single submitter

(ACMG Guidelines, 2015)
Benign
(Feb 5, 2024)
germlineclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot provided1not providednot provided1not providedclinical testing
not providedgermlineunknown9not providednot provided108544not providedclinical testing
Africangermlineyes2not providednot providednot providednot providedclinical testing
African Americangermlineyes1not providednot providednot providednot providedclinical testing
Native Americangermlineyes1not providednot providednot providednot providedclinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Sharing Clinical Reports Project (SCRP), SCV000115240.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot provided1not providednot providednot providednot providednot providednot provided

From Breast Cancer Information Core (BIC) (BRCA1), SCV000144035.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1African2not providednot providedclinical testingnot provided
2African American1not providednot providedclinical testingnot provided
3Native American1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided2not providednot providednot provided
2germlineyesnot providednot providednot provided1not providednot providednot provided
3germlineyesnot providednot providednot provided1not providednot providednot provided

From All of Us Research Program, National Institutes of Health, SCV004818359.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided9not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknown108544not providednot provided9not providednot providednot provided

Last Updated: Jun 23, 2024