NM_007294.4(BRCA1):c.1448T>C (p.Ile483Thr) AND Hereditary cancer-predisposing syndrome
- Somatic classification
of clinical impact: - None
- Review status:
- (0/4) 0 stars out of maximum of 4 starsno assertion criteria provided
- Somatic classification
of oncogenicity: - None
- Review status:
- (0/4) 0 stars out of maximum of 4 starsno assertion criteria provided
- Record status:
- current
- Accession:
- RCV000575874.12
Allele description [Variation Report for NM_007294.4(BRCA1):c.1448T>C (p.Ile483Thr)]
NM_007294.4(BRCA1):c.1448T>C (p.Ile483Thr)
- 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.1448T>C (p.Ile483Thr)
- HGVS:
- NC_000017.11:g.43094083A>G
- NG_005905.2:g.123901T>C
- NM_001407571.1:c.1235T>C
- NM_001407581.1:c.1448T>C
- NM_001407582.1:c.1448T>C
- NM_001407583.1:c.1448T>C
- NM_001407585.1:c.1448T>C
- NM_001407587.1:c.1445T>C
- NM_001407590.1:c.1445T>C
- NM_001407591.1:c.1445T>C
- NM_001407593.1:c.1448T>C
- NM_001407594.1:c.1448T>C
- NM_001407596.1:c.1448T>C
- NM_001407597.1:c.1448T>C
- NM_001407598.1:c.1448T>C
- NM_001407602.1:c.1448T>C
- NM_001407603.1:c.1448T>C
- NM_001407605.1:c.1448T>C
- NM_001407610.1:c.1445T>C
- NM_001407611.1:c.1445T>C
- NM_001407612.1:c.1445T>C
- NM_001407613.1:c.1445T>C
- NM_001407614.1:c.1445T>C
- NM_001407615.1:c.1445T>C
- NM_001407616.1:c.1448T>C
- NM_001407617.1:c.1448T>C
- NM_001407618.1:c.1448T>C
- NM_001407619.1:c.1448T>C
- NM_001407620.1:c.1448T>C
- NM_001407621.1:c.1448T>C
- NM_001407622.1:c.1448T>C
- NM_001407623.1:c.1448T>C
- NM_001407624.1:c.1448T>C
- NM_001407625.1:c.1448T>C
- NM_001407626.1:c.1448T>C
- NM_001407627.1:c.1445T>C
- NM_001407628.1:c.1445T>C
- NM_001407629.1:c.1445T>C
- NM_001407630.1:c.1445T>C
- NM_001407631.1:c.1445T>C
- NM_001407632.1:c.1445T>C
- NM_001407633.1:c.1445T>C
- NM_001407634.1:c.1445T>C
- NM_001407635.1:c.1445T>C
- NM_001407636.1:c.1445T>C
- NM_001407637.1:c.1445T>C
- NM_001407638.1:c.1445T>C
- NM_001407639.1:c.1448T>C
- NM_001407640.1:c.1448T>C
- NM_001407641.1:c.1448T>C
- NM_001407642.1:c.1448T>C
- NM_001407644.1:c.1445T>C
- NM_001407645.1:c.1445T>C
- NM_001407646.1:c.1439T>C
- NM_001407647.1:c.1439T>C
- NM_001407648.1:c.1325T>C
- NM_001407649.1:c.1322T>C
- NM_001407652.1:c.1448T>C
- NM_001407653.1:c.1370T>C
- NM_001407654.1:c.1370T>C
- NM_001407655.1:c.1370T>C
- NM_001407656.1:c.1370T>C
- NM_001407657.1:c.1370T>C
- NM_001407658.1:c.1370T>C
- NM_001407659.1:c.1367T>C
- NM_001407660.1:c.1367T>C
- NM_001407661.1:c.1367T>C
- NM_001407662.1:c.1367T>C
- NM_001407663.1:c.1370T>C
- NM_001407664.1:c.1325T>C
- NM_001407665.1:c.1325T>C
- NM_001407666.1:c.1325T>C
- NM_001407667.1:c.1325T>C
- NM_001407668.1:c.1325T>C
- NM_001407669.1:c.1325T>C
- NM_001407670.1:c.1322T>C
- NM_001407671.1:c.1322T>C
- NM_001407672.1:c.1322T>C
- NM_001407673.1:c.1322T>C
- NM_001407674.1:c.1325T>C
- NM_001407675.1:c.1325T>C
- NM_001407676.1:c.1325T>C
- NM_001407677.1:c.1325T>C
- NM_001407678.1:c.1325T>C
- NM_001407679.1:c.1325T>C
- NM_001407680.1:c.1325T>C
- NM_001407681.1:c.1325T>C
- NM_001407682.1:c.1325T>C
- NM_001407683.1:c.1325T>C
- NM_001407684.1:c.1448T>C
- NM_001407685.1:c.1322T>C
- NM_001407686.1:c.1322T>C
- NM_001407687.1:c.1322T>C
- NM_001407688.1:c.1322T>C
- NM_001407689.1:c.1322T>C
- NM_001407690.1:c.1322T>C
- NM_001407691.1:c.1322T>C
- NM_001407692.1:c.1307T>C
- NM_001407694.1:c.1307T>C
- NM_001407695.1:c.1307T>C
- NM_001407696.1:c.1307T>C
- NM_001407697.1:c.1307T>C
- NM_001407698.1:c.1307T>C
- NM_001407724.1:c.1307T>C
- NM_001407725.1:c.1307T>C
- NM_001407726.1:c.1307T>C
- NM_001407727.1:c.1307T>C
- NM_001407728.1:c.1307T>C
- NM_001407729.1:c.1307T>C
- NM_001407730.1:c.1307T>C
- NM_001407731.1:c.1307T>C
- NM_001407732.1:c.1307T>C
- NM_001407733.1:c.1307T>C
- NM_001407734.1:c.1307T>C
- NM_001407735.1:c.1307T>C
- NM_001407736.1:c.1307T>C
- NM_001407737.1:c.1307T>C
- NM_001407738.1:c.1307T>C
- NM_001407739.1:c.1307T>C
- NM_001407740.1:c.1304T>C
- NM_001407741.1:c.1304T>C
- NM_001407742.1:c.1304T>C
- NM_001407743.1:c.1304T>C
- NM_001407744.1:c.1304T>C
- NM_001407745.1:c.1304T>C
- NM_001407746.1:c.1304T>C
- NM_001407747.1:c.1304T>C
- NM_001407748.1:c.1304T>C
- NM_001407749.1:c.1304T>C
- NM_001407750.1:c.1307T>C
- NM_001407751.1:c.1307T>C
- NM_001407752.1:c.1307T>C
- NM_001407838.1:c.1304T>C
- NM_001407839.1:c.1304T>C
- NM_001407841.1:c.1304T>C
- NM_001407842.1:c.1304T>C
- NM_001407843.1:c.1304T>C
- NM_001407844.1:c.1304T>C
- NM_001407845.1:c.1304T>C
- NM_001407846.1:c.1304T>C
- NM_001407847.1:c.1304T>C
- NM_001407848.1:c.1304T>C
- NM_001407849.1:c.1304T>C
- NM_001407850.1:c.1307T>C
- NM_001407851.1:c.1307T>C
- NM_001407852.1:c.1307T>C
- NM_001407853.1:c.1235T>C
- NM_001407854.1:c.1448T>C
- NM_001407858.1:c.1448T>C
- NM_001407859.1:c.1448T>C
- NM_001407860.1:c.1445T>C
- NM_001407861.1:c.1445T>C
- NM_001407862.1:c.1247T>C
- NM_001407863.1:c.1325T>C
- NM_001407874.1:c.1244T>C
- NM_001407875.1:c.1244T>C
- NM_001407879.1:c.1238T>C
- NM_001407881.1:c.1238T>C
- NM_001407882.1:c.1238T>C
- NM_001407884.1:c.1238T>C
- NM_001407885.1:c.1238T>C
- NM_001407886.1:c.1238T>C
- NM_001407887.1:c.1238T>C
- NM_001407889.1:c.1238T>C
- NM_001407894.1:c.1235T>C
- NM_001407895.1:c.1235T>C
- NM_001407896.1:c.1235T>C
- NM_001407897.1:c.1235T>C
- NM_001407898.1:c.1235T>C
- NM_001407899.1:c.1235T>C
- NM_001407900.1:c.1238T>C
- NM_001407902.1:c.1238T>C
- NM_001407904.1:c.1238T>C
- NM_001407906.1:c.1238T>C
- NM_001407907.1:c.1238T>C
- NM_001407908.1:c.1238T>C
- NM_001407909.1:c.1238T>C
- NM_001407910.1:c.1238T>C
- NM_001407915.1:c.1235T>C
- NM_001407916.1:c.1235T>C
- NM_001407917.1:c.1235T>C
- NM_001407918.1:c.1235T>C
- NM_001407919.1:c.1325T>C
- NM_001407920.1:c.1184T>C
- NM_001407921.1:c.1184T>C
- NM_001407922.1:c.1184T>C
- NM_001407923.1:c.1184T>C
- NM_001407924.1:c.1184T>C
- NM_001407925.1:c.1184T>C
- NM_001407926.1:c.1184T>C
- NM_001407927.1:c.1184T>C
- NM_001407928.1:c.1184T>C
- NM_001407929.1:c.1184T>C
- NM_001407930.1:c.1181T>C
- NM_001407931.1:c.1181T>C
- NM_001407932.1:c.1181T>C
- NM_001407933.1:c.1184T>C
- NM_001407934.1:c.1181T>C
- NM_001407935.1:c.1184T>C
- NM_001407936.1:c.1181T>C
- NM_001407937.1:c.1325T>C
- NM_001407938.1:c.1325T>C
- NM_001407939.1:c.1325T>C
- NM_001407940.1:c.1322T>C
- NM_001407941.1:c.1322T>C
- NM_001407942.1:c.1307T>C
- NM_001407943.1:c.1304T>C
- NM_001407944.1:c.1307T>C
- NM_001407945.1:c.1307T>C
- NM_001407946.1:c.1115T>C
- NM_001407947.1:c.1115T>C
- NM_001407948.1:c.1115T>C
- NM_001407949.1:c.1115T>C
- NM_001407950.1:c.1115T>C
- NM_001407951.1:c.1115T>C
- NM_001407952.1:c.1115T>C
- NM_001407953.1:c.1115T>C
- NM_001407954.1:c.1112T>C
- NM_001407955.1:c.1112T>C
- NM_001407956.1:c.1112T>C
- NM_001407957.1:c.1115T>C
- NM_001407958.1:c.1112T>C
- NM_001407959.1:c.1067T>C
- NM_001407960.1:c.1067T>C
- NM_001407962.1:c.1064T>C
- NM_001407963.1:c.1067T>C
- NM_001407964.1:c.1304T>C
- NM_001407965.1:c.944T>C
- NM_001407966.1:c.560T>C
- NM_001407967.1:c.560T>C
- NM_001407968.1:c.787+661T>C
- NM_001407969.1:c.787+661T>C
- NM_001407970.1:c.787+661T>C
- NM_001407971.1:c.787+661T>C
- NM_001407972.1:c.784+661T>C
- NM_001407973.1:c.787+661T>C
- NM_001407974.1:c.787+661T>C
- NM_001407975.1:c.787+661T>C
- NM_001407976.1:c.787+661T>C
- NM_001407977.1:c.787+661T>C
- NM_001407978.1:c.787+661T>C
- NM_001407979.1:c.787+661T>C
- NM_001407980.1:c.787+661T>C
- NM_001407981.1:c.787+661T>C
- NM_001407982.1:c.787+661T>C
- NM_001407983.1:c.787+661T>C
- NM_001407984.1:c.784+661T>C
- NM_001407985.1:c.784+661T>C
- NM_001407986.1:c.784+661T>C
- NM_001407990.1:c.787+661T>C
- NM_001407991.1:c.784+661T>C
- NM_001407992.1:c.784+661T>C
- NM_001407993.1:c.787+661T>C
- NM_001408392.1:c.784+661T>C
- NM_001408396.1:c.784+661T>C
- NM_001408397.1:c.784+661T>C
- NM_001408398.1:c.784+661T>C
- NM_001408399.1:c.784+661T>C
- NM_001408400.1:c.784+661T>C
- NM_001408401.1:c.784+661T>C
- NM_001408402.1:c.784+661T>C
- NM_001408403.1:c.787+661T>C
- NM_001408404.1:c.787+661T>C
- NM_001408406.1:c.790+658T>C
- NM_001408407.1:c.784+661T>C
- NM_001408408.1:c.778+661T>C
- NM_001408409.1:c.709+661T>C
- NM_001408410.1:c.646+661T>C
- NM_001408411.1:c.709+661T>C
- NM_001408412.1:c.709+661T>C
- NM_001408413.1:c.706+661T>C
- NM_001408414.1:c.709+661T>C
- NM_001408415.1:c.709+661T>C
- NM_001408416.1:c.706+661T>C
- NM_001408418.1:c.670+1763T>C
- NM_001408419.1:c.670+1763T>C
- NM_001408420.1:c.670+1763T>C
- NM_001408421.1:c.667+1763T>C
- NM_001408422.1:c.670+1763T>C
- NM_001408423.1:c.670+1763T>C
- NM_001408424.1:c.667+1763T>C
- NM_001408425.1:c.664+661T>C
- NM_001408426.1:c.664+661T>C
- NM_001408427.1:c.664+661T>C
- NM_001408428.1:c.664+661T>C
- NM_001408429.1:c.664+661T>C
- NM_001408430.1:c.664+661T>C
- NM_001408431.1:c.667+1763T>C
- NM_001408432.1:c.661+661T>C
- NM_001408433.1:c.661+661T>C
- NM_001408434.1:c.661+661T>C
- NM_001408435.1:c.661+661T>C
- NM_001408436.1:c.664+661T>C
- NM_001408437.1:c.664+661T>C
- NM_001408438.1:c.664+661T>C
- NM_001408439.1:c.664+661T>C
- NM_001408440.1:c.664+661T>C
- NM_001408441.1:c.664+661T>C
- NM_001408442.1:c.664+661T>C
- NM_001408443.1:c.664+661T>C
- NM_001408444.1:c.664+661T>C
- NM_001408445.1:c.661+661T>C
- NM_001408446.1:c.661+661T>C
- NM_001408447.1:c.661+661T>C
- NM_001408448.1:c.661+661T>C
- NM_001408450.1:c.661+661T>C
- NM_001408451.1:c.652+661T>C
- NM_001408452.1:c.646+661T>C
- NM_001408453.1:c.646+661T>C
- NM_001408454.1:c.646+661T>C
- NM_001408455.1:c.646+661T>C
- NM_001408456.1:c.646+661T>C
- NM_001408457.1:c.646+661T>C
- NM_001408458.1:c.646+661T>C
- NM_001408459.1:c.646+661T>C
- NM_001408460.1:c.646+661T>C
- NM_001408461.1:c.646+661T>C
- NM_001408462.1:c.643+661T>C
- NM_001408463.1:c.643+661T>C
- NM_001408464.1:c.643+661T>C
- NM_001408465.1:c.643+661T>C
- NM_001408466.1:c.646+661T>C
- NM_001408467.1:c.646+661T>C
- NM_001408468.1:c.643+661T>C
- NM_001408469.1:c.646+661T>C
- NM_001408470.1:c.643+661T>C
- NM_001408472.1:c.787+661T>C
- NM_001408473.1:c.784+661T>C
- NM_001408474.1:c.586+661T>C
- NM_001408475.1:c.583+661T>C
- NM_001408476.1:c.586+661T>C
- NM_001408478.1:c.577+661T>C
- NM_001408479.1:c.577+661T>C
- NM_001408480.1:c.577+661T>C
- NM_001408481.1:c.577+661T>C
- NM_001408482.1:c.577+661T>C
- NM_001408483.1:c.577+661T>C
- NM_001408484.1:c.577+661T>C
- NM_001408485.1:c.577+661T>C
- NM_001408489.1:c.577+661T>C
- NM_001408490.1:c.574+661T>C
- NM_001408491.1:c.574+661T>C
- NM_001408492.1:c.577+661T>C
- NM_001408493.1:c.574+661T>C
- NM_001408494.1:c.548-3051T>C
- NM_001408495.1:c.545-3051T>C
- NM_001408496.1:c.523+661T>C
- NM_001408497.1:c.523+661T>C
- NM_001408498.1:c.523+661T>C
- NM_001408499.1:c.523+661T>C
- NM_001408500.1:c.523+661T>C
- NM_001408501.1:c.523+661T>C
- NM_001408502.1:c.454+661T>C
- NM_001408503.1:c.520+661T>C
- NM_001408504.1:c.520+661T>C
- NM_001408505.1:c.520+661T>C
- NM_001408506.1:c.460+1763T>C
- NM_001408507.1:c.460+1763T>C
- NM_001408508.1:c.451+661T>C
- NM_001408509.1:c.451+661T>C
- NM_001408510.1:c.406+661T>C
- NM_001408511.1:c.404-3051T>C
- NM_001408512.1:c.283+661T>C
- NM_001408513.1:c.577+661T>C
- NM_001408514.1:c.577+661T>C
- NM_007294.4:c.1448T>CMANE SELECT
- NM_007297.4:c.1307T>C
- NM_007298.4:c.787+661T>C
- NM_007299.4:c.787+661T>C
- NM_007300.4:c.1448T>C
- NP_001394500.1:p.Ile412Thr
- NP_001394510.1:p.Ile483Thr
- NP_001394511.1:p.Ile483Thr
- NP_001394512.1:p.Ile483Thr
- NP_001394514.1:p.Ile483Thr
- NP_001394516.1:p.Ile482Thr
- NP_001394519.1:p.Ile482Thr
- NP_001394520.1:p.Ile482Thr
- NP_001394522.1:p.Ile483Thr
- NP_001394523.1:p.Ile483Thr
- NP_001394525.1:p.Ile483Thr
- NP_001394526.1:p.Ile483Thr
- NP_001394527.1:p.Ile483Thr
- NP_001394531.1:p.Ile483Thr
- NP_001394532.1:p.Ile483Thr
- NP_001394534.1:p.Ile483Thr
- NP_001394539.1:p.Ile482Thr
- NP_001394540.1:p.Ile482Thr
- NP_001394541.1:p.Ile482Thr
- NP_001394542.1:p.Ile482Thr
- NP_001394543.1:p.Ile482Thr
- NP_001394544.1:p.Ile482Thr
- NP_001394545.1:p.Ile483Thr
- NP_001394546.1:p.Ile483Thr
- NP_001394547.1:p.Ile483Thr
- NP_001394548.1:p.Ile483Thr
- NP_001394549.1:p.Ile483Thr
- NP_001394550.1:p.Ile483Thr
- NP_001394551.1:p.Ile483Thr
- NP_001394552.1:p.Ile483Thr
- NP_001394553.1:p.Ile483Thr
- NP_001394554.1:p.Ile483Thr
- NP_001394555.1:p.Ile483Thr
- NP_001394556.1:p.Ile482Thr
- NP_001394557.1:p.Ile482Thr
- NP_001394558.1:p.Ile482Thr
- NP_001394559.1:p.Ile482Thr
- NP_001394560.1:p.Ile482Thr
- NP_001394561.1:p.Ile482Thr
- NP_001394562.1:p.Ile482Thr
- NP_001394563.1:p.Ile482Thr
- NP_001394564.1:p.Ile482Thr
- NP_001394565.1:p.Ile482Thr
- NP_001394566.1:p.Ile482Thr
- NP_001394567.1:p.Ile482Thr
- NP_001394568.1:p.Ile483Thr
- NP_001394569.1:p.Ile483Thr
- NP_001394570.1:p.Ile483Thr
- NP_001394571.1:p.Ile483Thr
- NP_001394573.1:p.Ile482Thr
- NP_001394574.1:p.Ile482Thr
- NP_001394575.1:p.Ile480Thr
- NP_001394576.1:p.Ile480Thr
- NP_001394577.1:p.Ile442Thr
- NP_001394578.1:p.Ile441Thr
- NP_001394581.1:p.Ile483Thr
- NP_001394582.1:p.Ile457Thr
- NP_001394583.1:p.Ile457Thr
- NP_001394584.1:p.Ile457Thr
- NP_001394585.1:p.Ile457Thr
- NP_001394586.1:p.Ile457Thr
- NP_001394587.1:p.Ile457Thr
- NP_001394588.1:p.Ile456Thr
- NP_001394589.1:p.Ile456Thr
- NP_001394590.1:p.Ile456Thr
- NP_001394591.1:p.Ile456Thr
- NP_001394592.1:p.Ile457Thr
- NP_001394593.1:p.Ile442Thr
- NP_001394594.1:p.Ile442Thr
- NP_001394595.1:p.Ile442Thr
- NP_001394596.1:p.Ile442Thr
- NP_001394597.1:p.Ile442Thr
- NP_001394598.1:p.Ile442Thr
- NP_001394599.1:p.Ile441Thr
- NP_001394600.1:p.Ile441Thr
- NP_001394601.1:p.Ile441Thr
- NP_001394602.1:p.Ile441Thr
- NP_001394603.1:p.Ile442Thr
- NP_001394604.1:p.Ile442Thr
- NP_001394605.1:p.Ile442Thr
- NP_001394606.1:p.Ile442Thr
- NP_001394607.1:p.Ile442Thr
- NP_001394608.1:p.Ile442Thr
- NP_001394609.1:p.Ile442Thr
- NP_001394610.1:p.Ile442Thr
- NP_001394611.1:p.Ile442Thr
- NP_001394612.1:p.Ile442Thr
- NP_001394613.1:p.Ile483Thr
- NP_001394614.1:p.Ile441Thr
- NP_001394615.1:p.Ile441Thr
- NP_001394616.1:p.Ile441Thr
- NP_001394617.1:p.Ile441Thr
- NP_001394618.1:p.Ile441Thr
- NP_001394619.1:p.Ile441Thr
- NP_001394620.1:p.Ile441Thr
- NP_001394621.1:p.Ile436Thr
- NP_001394623.1:p.Ile436Thr
- NP_001394624.1:p.Ile436Thr
- NP_001394625.1:p.Ile436Thr
- NP_001394626.1:p.Ile436Thr
- NP_001394627.1:p.Ile436Thr
- NP_001394653.1:p.Ile436Thr
- NP_001394654.1:p.Ile436Thr
- NP_001394655.1:p.Ile436Thr
- NP_001394656.1:p.Ile436Thr
- NP_001394657.1:p.Ile436Thr
- NP_001394658.1:p.Ile436Thr
- NP_001394659.1:p.Ile436Thr
- NP_001394660.1:p.Ile436Thr
- NP_001394661.1:p.Ile436Thr
- NP_001394662.1:p.Ile436Thr
- NP_001394663.1:p.Ile436Thr
- NP_001394664.1:p.Ile436Thr
- NP_001394665.1:p.Ile436Thr
- NP_001394666.1:p.Ile436Thr
- NP_001394667.1:p.Ile436Thr
- NP_001394668.1:p.Ile436Thr
- NP_001394669.1:p.Ile435Thr
- NP_001394670.1:p.Ile435Thr
- NP_001394671.1:p.Ile435Thr
- NP_001394672.1:p.Ile435Thr
- NP_001394673.1:p.Ile435Thr
- NP_001394674.1:p.Ile435Thr
- NP_001394675.1:p.Ile435Thr
- NP_001394676.1:p.Ile435Thr
- NP_001394677.1:p.Ile435Thr
- NP_001394678.1:p.Ile435Thr
- NP_001394679.1:p.Ile436Thr
- NP_001394680.1:p.Ile436Thr
- NP_001394681.1:p.Ile436Thr
- NP_001394767.1:p.Ile435Thr
- NP_001394768.1:p.Ile435Thr
- NP_001394770.1:p.Ile435Thr
- NP_001394771.1:p.Ile435Thr
- NP_001394772.1:p.Ile435Thr
- NP_001394773.1:p.Ile435Thr
- NP_001394774.1:p.Ile435Thr
- NP_001394775.1:p.Ile435Thr
- NP_001394776.1:p.Ile435Thr
- NP_001394777.1:p.Ile435Thr
- NP_001394778.1:p.Ile435Thr
- NP_001394779.1:p.Ile436Thr
- NP_001394780.1:p.Ile436Thr
- NP_001394781.1:p.Ile436Thr
- NP_001394782.1:p.Ile412Thr
- NP_001394783.1:p.Ile483Thr
- NP_001394787.1:p.Ile483Thr
- NP_001394788.1:p.Ile483Thr
- NP_001394789.1:p.Ile482Thr
- NP_001394790.1:p.Ile482Thr
- NP_001394791.1:p.Ile416Thr
- NP_001394792.1:p.Ile442Thr
- NP_001394803.1:p.Ile415Thr
- NP_001394804.1:p.Ile415Thr
- NP_001394808.1:p.Ile413Thr
- NP_001394810.1:p.Ile413Thr
- NP_001394811.1:p.Ile413Thr
- NP_001394813.1:p.Ile413Thr
- NP_001394814.1:p.Ile413Thr
- NP_001394815.1:p.Ile413Thr
- NP_001394816.1:p.Ile413Thr
- NP_001394818.1:p.Ile413Thr
- NP_001394823.1:p.Ile412Thr
- NP_001394824.1:p.Ile412Thr
- NP_001394825.1:p.Ile412Thr
- NP_001394826.1:p.Ile412Thr
- NP_001394827.1:p.Ile412Thr
- NP_001394828.1:p.Ile412Thr
- NP_001394829.1:p.Ile413Thr
- NP_001394831.1:p.Ile413Thr
- NP_001394833.1:p.Ile413Thr
- NP_001394835.1:p.Ile413Thr
- NP_001394836.1:p.Ile413Thr
- NP_001394837.1:p.Ile413Thr
- NP_001394838.1:p.Ile413Thr
- NP_001394839.1:p.Ile413Thr
- NP_001394844.1:p.Ile412Thr
- NP_001394845.1:p.Ile412Thr
- NP_001394846.1:p.Ile412Thr
- NP_001394847.1:p.Ile412Thr
- NP_001394848.1:p.Ile442Thr
- NP_001394849.1:p.Ile395Thr
- NP_001394850.1:p.Ile395Thr
- NP_001394851.1:p.Ile395Thr
- NP_001394852.1:p.Ile395Thr
- NP_001394853.1:p.Ile395Thr
- NP_001394854.1:p.Ile395Thr
- NP_001394855.1:p.Ile395Thr
- NP_001394856.1:p.Ile395Thr
- NP_001394857.1:p.Ile395Thr
- NP_001394858.1:p.Ile395Thr
- NP_001394859.1:p.Ile394Thr
- NP_001394860.1:p.Ile394Thr
- NP_001394861.1:p.Ile394Thr
- NP_001394862.1:p.Ile395Thr
- NP_001394863.1:p.Ile394Thr
- NP_001394864.1:p.Ile395Thr
- NP_001394865.1:p.Ile394Thr
- NP_001394866.1:p.Ile442Thr
- NP_001394867.1:p.Ile442Thr
- NP_001394868.1:p.Ile442Thr
- NP_001394869.1:p.Ile441Thr
- NP_001394870.1:p.Ile441Thr
- NP_001394871.1:p.Ile436Thr
- NP_001394872.1:p.Ile435Thr
- NP_001394873.1:p.Ile436Thr
- NP_001394874.1:p.Ile436Thr
- NP_001394875.1:p.Ile372Thr
- NP_001394876.1:p.Ile372Thr
- NP_001394877.1:p.Ile372Thr
- NP_001394878.1:p.Ile372Thr
- NP_001394879.1:p.Ile372Thr
- NP_001394880.1:p.Ile372Thr
- NP_001394881.1:p.Ile372Thr
- NP_001394882.1:p.Ile372Thr
- NP_001394883.1:p.Ile371Thr
- NP_001394884.1:p.Ile371Thr
- NP_001394885.1:p.Ile371Thr
- NP_001394886.1:p.Ile372Thr
- NP_001394887.1:p.Ile371Thr
- NP_001394888.1:p.Ile356Thr
- NP_001394889.1:p.Ile356Thr
- NP_001394891.1:p.Ile355Thr
- NP_001394892.1:p.Ile356Thr
- NP_001394893.1:p.Ile435Thr
- NP_001394894.1:p.Ile315Thr
- NP_001394895.1:p.Ile187Thr
- NP_001394896.1:p.Ile187Thr
- NP_009225.1:p.Ile483Thr
- NP_009225.1:p.Ile483Thr
- NP_009228.2:p.Ile436Thr
- NP_009231.2:p.Ile483Thr
- LRG_292t1:c.1448T>C
- LRG_292:g.123901T>C
- LRG_292p1:p.Ile483Thr
- NC_000017.10:g.41246100A>G
- NM_007294.3:c.1448T>C
- NR_027676.1:n.1584T>C
- U14680.1:n.1567T>C
This HGVS expression did not pass validation- Nucleotide change:
- 1567T>C
- Protein change:
- I187T
- Links:
- dbSNP: rs80357489
- NCBI 1000 Genomes Browser:
- rs80357489
- Molecular consequence:
- NM_001407968.1:c.787+661T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407969.1:c.787+661T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407970.1:c.787+661T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407971.1:c.787+661T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407972.1:c.784+661T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407973.1:c.787+661T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407974.1:c.787+661T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407975.1:c.787+661T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407976.1:c.787+661T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407977.1:c.787+661T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407978.1:c.787+661T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407979.1:c.787+661T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407980.1:c.787+661T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407981.1:c.787+661T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407982.1:c.787+661T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407983.1:c.787+661T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407984.1:c.784+661T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407985.1:c.784+661T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407986.1:c.784+661T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407990.1:c.787+661T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407991.1:c.784+661T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407992.1:c.784+661T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407993.1:c.787+661T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408392.1:c.784+661T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408396.1:c.784+661T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408397.1:c.784+661T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408398.1:c.784+661T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408399.1:c.784+661T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408400.1:c.784+661T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408401.1:c.784+661T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408402.1:c.784+661T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408403.1:c.787+661T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408404.1:c.787+661T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408406.1:c.790+658T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408407.1:c.784+661T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408408.1:c.778+661T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408409.1:c.709+661T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408410.1:c.646+661T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408411.1:c.709+661T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408412.1:c.709+661T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408413.1:c.706+661T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408414.1:c.709+661T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408415.1:c.709+661T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408416.1:c.706+661T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408418.1:c.670+1763T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408419.1:c.670+1763T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408420.1:c.670+1763T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408421.1:c.667+1763T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408422.1:c.670+1763T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408423.1:c.670+1763T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408424.1:c.667+1763T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408425.1:c.664+661T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408426.1:c.664+661T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408427.1:c.664+661T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408428.1:c.664+661T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408429.1:c.664+661T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408430.1:c.664+661T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408431.1:c.667+1763T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408432.1:c.661+661T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408433.1:c.661+661T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408434.1:c.661+661T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408435.1:c.661+661T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408436.1:c.664+661T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408437.1:c.664+661T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408438.1:c.664+661T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408439.1:c.664+661T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408440.1:c.664+661T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408441.1:c.664+661T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408442.1:c.664+661T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408443.1:c.664+661T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408444.1:c.664+661T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408445.1:c.661+661T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408446.1:c.661+661T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408447.1:c.661+661T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408448.1:c.661+661T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408450.1:c.661+661T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408451.1:c.652+661T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408452.1:c.646+661T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408453.1:c.646+661T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408454.1:c.646+661T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408455.1:c.646+661T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408456.1:c.646+661T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408457.1:c.646+661T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408458.1:c.646+661T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408459.1:c.646+661T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408460.1:c.646+661T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408461.1:c.646+661T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408462.1:c.643+661T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408463.1:c.643+661T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408464.1:c.643+661T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408465.1:c.643+661T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408466.1:c.646+661T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408467.1:c.646+661T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408468.1:c.643+661T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408469.1:c.646+661T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408470.1:c.643+661T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408472.1:c.787+661T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408473.1:c.784+661T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408474.1:c.586+661T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408475.1:c.583+661T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408476.1:c.586+661T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408478.1:c.577+661T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408479.1:c.577+661T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408480.1:c.577+661T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408481.1:c.577+661T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408482.1:c.577+661T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408483.1:c.577+661T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408484.1:c.577+661T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408485.1:c.577+661T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408489.1:c.577+661T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408490.1:c.574+661T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408491.1:c.574+661T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408492.1:c.577+661T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408493.1:c.574+661T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408494.1:c.548-3051T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408495.1:c.545-3051T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408496.1:c.523+661T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408497.1:c.523+661T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408498.1:c.523+661T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408499.1:c.523+661T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408500.1:c.523+661T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408501.1:c.523+661T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408502.1:c.454+661T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408503.1:c.520+661T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408504.1:c.520+661T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408505.1:c.520+661T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408506.1:c.460+1763T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408507.1:c.460+1763T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408508.1:c.451+661T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408509.1:c.451+661T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408510.1:c.406+661T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408511.1:c.404-3051T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408512.1:c.283+661T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408513.1:c.577+661T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408514.1:c.577+661T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_007298.4:c.787+661T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_007299.4:c.787+661T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407571.1:c.1235T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407581.1:c.1448T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407582.1:c.1448T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407583.1:c.1448T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407585.1:c.1448T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407587.1:c.1445T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407590.1:c.1445T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407591.1:c.1445T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407593.1:c.1448T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407594.1:c.1448T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407596.1:c.1448T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407597.1:c.1448T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407598.1:c.1448T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407602.1:c.1448T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407603.1:c.1448T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407605.1:c.1448T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407610.1:c.1445T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407611.1:c.1445T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407612.1:c.1445T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407613.1:c.1445T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407614.1:c.1445T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407615.1:c.1445T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407616.1:c.1448T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407617.1:c.1448T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407618.1:c.1448T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407619.1:c.1448T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407620.1:c.1448T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407621.1:c.1448T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407622.1:c.1448T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407623.1:c.1448T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407624.1:c.1448T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407625.1:c.1448T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407626.1:c.1448T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407627.1:c.1445T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407628.1:c.1445T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407629.1:c.1445T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407630.1:c.1445T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407631.1:c.1445T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407632.1:c.1445T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407633.1:c.1445T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407634.1:c.1445T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407635.1:c.1445T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407636.1:c.1445T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407637.1:c.1445T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407638.1:c.1445T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407639.1:c.1448T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407640.1:c.1448T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407641.1:c.1448T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407642.1:c.1448T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407644.1:c.1445T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407645.1:c.1445T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407646.1:c.1439T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407647.1:c.1439T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407648.1:c.1325T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407649.1:c.1322T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407652.1:c.1448T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407653.1:c.1370T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407654.1:c.1370T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407655.1:c.1370T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407656.1:c.1370T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407657.1:c.1370T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407658.1:c.1370T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407659.1:c.1367T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407660.1:c.1367T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407661.1:c.1367T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407662.1:c.1367T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407663.1:c.1370T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407664.1:c.1325T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407665.1:c.1325T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407666.1:c.1325T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407667.1:c.1325T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407668.1:c.1325T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407669.1:c.1325T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407670.1:c.1322T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407671.1:c.1322T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407672.1:c.1322T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407673.1:c.1322T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407674.1:c.1325T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407675.1:c.1325T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407676.1:c.1325T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407677.1:c.1325T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407678.1:c.1325T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407679.1:c.1325T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407680.1:c.1325T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407681.1:c.1325T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407682.1:c.1325T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407683.1:c.1325T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407684.1:c.1448T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407685.1:c.1322T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407686.1:c.1322T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407687.1:c.1322T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407688.1:c.1322T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407689.1:c.1322T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407690.1:c.1322T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407691.1:c.1322T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407692.1:c.1307T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407694.1:c.1307T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407695.1:c.1307T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407696.1:c.1307T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407697.1:c.1307T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407698.1:c.1307T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407724.1:c.1307T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407725.1:c.1307T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407726.1:c.1307T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407727.1:c.1307T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407728.1:c.1307T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407729.1:c.1307T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407730.1:c.1307T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407731.1:c.1307T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407732.1:c.1307T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407733.1:c.1307T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407734.1:c.1307T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407735.1:c.1307T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407736.1:c.1307T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407737.1:c.1307T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407738.1:c.1307T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407739.1:c.1307T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407740.1:c.1304T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407741.1:c.1304T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407742.1:c.1304T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407743.1:c.1304T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407744.1:c.1304T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407745.1:c.1304T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407746.1:c.1304T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407747.1:c.1304T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407748.1:c.1304T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407749.1:c.1304T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407750.1:c.1307T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407751.1:c.1307T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407752.1:c.1307T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407838.1:c.1304T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407839.1:c.1304T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407841.1:c.1304T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407842.1:c.1304T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407843.1:c.1304T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407844.1:c.1304T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407845.1:c.1304T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407846.1:c.1304T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407847.1:c.1304T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407848.1:c.1304T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407849.1:c.1304T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407850.1:c.1307T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407851.1:c.1307T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407852.1:c.1307T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407853.1:c.1235T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407854.1:c.1448T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407858.1:c.1448T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407859.1:c.1448T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407860.1:c.1445T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407861.1:c.1445T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407862.1:c.1247T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407863.1:c.1325T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407874.1:c.1244T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407875.1:c.1244T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407879.1:c.1238T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407881.1:c.1238T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407882.1:c.1238T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407884.1:c.1238T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407885.1:c.1238T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407886.1:c.1238T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407887.1:c.1238T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407889.1:c.1238T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407894.1:c.1235T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407895.1:c.1235T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407896.1:c.1235T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407897.1:c.1235T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407898.1:c.1235T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407899.1:c.1235T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407900.1:c.1238T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407902.1:c.1238T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407904.1:c.1238T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407906.1:c.1238T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407907.1:c.1238T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407908.1:c.1238T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407909.1:c.1238T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407910.1:c.1238T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407915.1:c.1235T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407916.1:c.1235T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407917.1:c.1235T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407918.1:c.1235T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407919.1:c.1325T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407920.1:c.1184T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407921.1:c.1184T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407922.1:c.1184T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407923.1:c.1184T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407924.1:c.1184T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407925.1:c.1184T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407926.1:c.1184T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407927.1:c.1184T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407928.1:c.1184T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407929.1:c.1184T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407930.1:c.1181T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407931.1:c.1181T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407932.1:c.1181T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407933.1:c.1184T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407934.1:c.1181T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407935.1:c.1184T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407936.1:c.1181T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407937.1:c.1325T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407938.1:c.1325T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407939.1:c.1325T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407940.1:c.1322T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407941.1:c.1322T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407942.1:c.1307T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407943.1:c.1304T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407944.1:c.1307T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407945.1:c.1307T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407946.1:c.1115T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407947.1:c.1115T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407948.1:c.1115T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407949.1:c.1115T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407950.1:c.1115T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407951.1:c.1115T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407952.1:c.1115T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407953.1:c.1115T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407954.1:c.1112T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407955.1:c.1112T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407956.1:c.1112T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407957.1:c.1115T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407958.1:c.1112T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407959.1:c.1067T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407960.1:c.1067T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407962.1:c.1064T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407963.1:c.1067T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407964.1:c.1304T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407965.1:c.944T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407966.1:c.560T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407967.1:c.560T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_007294.4:c.1448T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_007297.4:c.1307T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_007300.4:c.1448T>C - 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
-
Slc25a10 protein [Mus musculus]
Slc25a10 protein [Mus musculus]gi|13096850|gb|AAH03222.1|Protein
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See more...Assertion and evidence details
Submission Accession | Submitter | Review Status (Assertion method) | Clinical Significance (Last evaluated) | Origin | Method | Citations |
---|---|---|---|---|---|---|
SCV000665343 | Ambry Genetics | criteria provided, single submitter (Ambry Variant Classification Scheme 2023) | Uncertain significance (Apr 7, 2022) | germline | clinical testing | |
SCV000909586 | Color Diagnostics, LLC DBA Color Health | criteria provided, single submitter (ACMG Guidelines, 2015) | Uncertain significance (Sep 4, 2023) | germline | clinical testing | |
SCV003851292 | University of Washington Department of Laboratory Medicine, University of Washington | criteria provided, single submitter (Dines et al. (Genet Med. 2020)) | Likely benign (Mar 23, 2023) | germline | curation |
Summary from all submissions
Ethnicity | Origin | Affected | Individuals | Families | Chromosomes tested | Number Tested | Family history | Method |
---|---|---|---|---|---|---|---|---|
not provided | germline | unknown | not provided | not provided | not provided | not provided | not provided | clinical testing, curation |
Citations
PubMed
Parsons MT, Tudini E, Li H, Hahnen E, Wappenschmidt B, Feliubadaló L, Aalfs CM, Agata S, Aittomäki K, Alducci E, Alonso-Cerezo MC, Arnold N, Auber B, Austin R, Azzollini J, Balmaña J, Barbieri E, Bartram CR, Blanco A, Blümcke B, Bonache S, Bonanni B, et al.
Hum Mutat. 2019 Sep;40(9):1557-1578. doi: 10.1002/humu.23818.
- PMID:
- 31131967
- PMCID:
- PMC6772163
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.
- PMID:
- 25741868
- PMCID:
- PMC4544753
Details of each submission
From Ambry Genetics, SCV000665343.5
# | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
---|---|---|---|---|---|---|
1 | not provided | not provided | not provided | not provided | clinical testing | not provided |
Description
The p.I483T variant (also known as c.1448T>C), located in coding exon 9 of the BRCA1 gene, results from a T to C substitution at nucleotide position 1448. The isoleucine at codon 483 is replaced by threonine, an amino acid with similar properties. This amino acid position is not well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
# | Sample | Method | Observation | |||||||
---|---|---|---|---|---|---|---|---|---|---|
Origin | Affected | Number tested | Tissue | Purpose | Method | Individuals | Allele frequency | Families | Co-occurrences | |
1 | germline | unknown | not provided | not provided | not provided | not provided | not provided | not provided | not provided |
From Color Diagnostics, LLC DBA Color Health, SCV000909586.3
# | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
---|---|---|---|---|---|---|
1 | not provided | not provided | not provided | not provided | clinical testing | PubMed (2) |
Description
This missense variant replaces isoleucine with threonine at codon 483 of the BRCA1 protein. Computational prediction is inconclusive regarding the impact of this variant on protein structure and function (internally defined REVEL score threshold 0.5 < inconclusive < 0.7, PMID: 27666373). To our knowledge, functional studies have not been reported for this variant. This variant has been report in a multifactorial analysis with likelihood ratios for pathogenicity based on co-occurrence with a pathogenic variant and family history of 1.0673 and 1.4557, respectively (PMID: 31131967). This variant has been identified in 1/31406 chromosomes in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.
# | Sample | Method | Observation | |||||||
---|---|---|---|---|---|---|---|---|---|---|
Origin | Affected | Number tested | Tissue | Purpose | Method | Individuals | Allele frequency | Families | Co-occurrences | |
1 | germline | unknown | not provided | not provided | not provided | not provided | not provided | not provided | not provided |
From University of Washington Department of Laboratory Medicine, University of Washington, SCV003851292.1
# | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
---|---|---|---|---|---|---|
1 | not provided | not provided | not provided | not provided | curation | PubMed (1) |
Description
Missense variant in a coldspot region where missense variants are very unlikely to be pathogenic (PMID:31911673).
# | Sample | Method | Observation | |||||||
---|---|---|---|---|---|---|---|---|---|---|
Origin | Affected | Number tested | Tissue | Purpose | Method | Individuals | Allele frequency | Families | Co-occurrences | |
1 | germline | unknown | not provided | not provided | not provided | not provided | not provided | not provided | not provided |
Last Updated: Oct 8, 2024