NM_007294.4(BRCA1):c.3238T>G (p.Leu1080Val) 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:
- RCV003157749.6
Allele description [Variation Report for NM_007294.4(BRCA1):c.3238T>G (p.Leu1080Val)]
NM_007294.4(BRCA1):c.3238T>G (p.Leu1080Val)
- Genes:
- BRCA1:BRCA1 DNA repair associated [Gene - OMIM - HGNC]
LOC126862571:BRD4-independent group 4 enhancer GRCh37_chr17:41243136-41244335 [Gene] - Variant type:
- single nucleotide variant
- Cytogenetic location:
- 17q21.31
- Genomic location:
- Preferred name:
- NM_007294.4(BRCA1):c.3238T>G (p.Leu1080Val)
- HGVS:
- NC_000017.11:g.43092293A>C
- NG_005905.2:g.125691T>G
- NG_087068.1:g.1275A>C
- NM_001407571.1:c.3025T>G
- NM_001407581.1:c.3238T>G
- NM_001407582.1:c.3238T>G
- NM_001407583.1:c.3238T>G
- NM_001407585.1:c.3238T>G
- NM_001407587.1:c.3235T>G
- NM_001407590.1:c.3235T>G
- NM_001407591.1:c.3235T>G
- NM_001407593.1:c.3238T>G
- NM_001407594.1:c.3238T>G
- NM_001407596.1:c.3238T>G
- NM_001407597.1:c.3238T>G
- NM_001407598.1:c.3238T>G
- NM_001407602.1:c.3238T>G
- NM_001407603.1:c.3238T>G
- NM_001407605.1:c.3238T>G
- NM_001407610.1:c.3235T>G
- NM_001407611.1:c.3235T>G
- NM_001407612.1:c.3235T>G
- NM_001407613.1:c.3235T>G
- NM_001407614.1:c.3235T>G
- NM_001407615.1:c.3235T>G
- NM_001407616.1:c.3238T>G
- NM_001407617.1:c.3238T>G
- NM_001407618.1:c.3238T>G
- NM_001407619.1:c.3238T>G
- NM_001407620.1:c.3238T>G
- NM_001407621.1:c.3238T>G
- NM_001407622.1:c.3238T>G
- NM_001407623.1:c.3238T>G
- NM_001407624.1:c.3238T>G
- NM_001407625.1:c.3238T>G
- NM_001407626.1:c.3238T>G
- NM_001407627.1:c.3235T>G
- NM_001407628.1:c.3235T>G
- NM_001407629.1:c.3235T>G
- NM_001407630.1:c.3235T>G
- NM_001407631.1:c.3235T>G
- NM_001407632.1:c.3235T>G
- NM_001407633.1:c.3235T>G
- NM_001407634.1:c.3235T>G
- NM_001407635.1:c.3235T>G
- NM_001407636.1:c.3235T>G
- NM_001407637.1:c.3235T>G
- NM_001407638.1:c.3235T>G
- NM_001407639.1:c.3238T>G
- NM_001407640.1:c.3238T>G
- NM_001407641.1:c.3238T>G
- NM_001407642.1:c.3238T>G
- NM_001407644.1:c.3235T>G
- NM_001407645.1:c.3235T>G
- NM_001407646.1:c.3229T>G
- NM_001407647.1:c.3229T>G
- NM_001407648.1:c.3115T>G
- NM_001407649.1:c.3112T>G
- NM_001407652.1:c.3238T>G
- NM_001407653.1:c.3160T>G
- NM_001407654.1:c.3160T>G
- NM_001407655.1:c.3160T>G
- NM_001407656.1:c.3160T>G
- NM_001407657.1:c.3160T>G
- NM_001407658.1:c.3160T>G
- NM_001407659.1:c.3157T>G
- NM_001407660.1:c.3157T>G
- NM_001407661.1:c.3157T>G
- NM_001407662.1:c.3157T>G
- NM_001407663.1:c.3160T>G
- NM_001407664.1:c.3115T>G
- NM_001407665.1:c.3115T>G
- NM_001407666.1:c.3115T>G
- NM_001407667.1:c.3115T>G
- NM_001407668.1:c.3115T>G
- NM_001407669.1:c.3115T>G
- NM_001407670.1:c.3112T>G
- NM_001407671.1:c.3112T>G
- NM_001407672.1:c.3112T>G
- NM_001407673.1:c.3112T>G
- NM_001407674.1:c.3115T>G
- NM_001407675.1:c.3115T>G
- NM_001407676.1:c.3115T>G
- NM_001407677.1:c.3115T>G
- NM_001407678.1:c.3115T>G
- NM_001407679.1:c.3115T>G
- NM_001407680.1:c.3115T>G
- NM_001407681.1:c.3115T>G
- NM_001407682.1:c.3115T>G
- NM_001407683.1:c.3115T>G
- NM_001407684.1:c.3238T>G
- NM_001407685.1:c.3112T>G
- NM_001407686.1:c.3112T>G
- NM_001407687.1:c.3112T>G
- NM_001407688.1:c.3112T>G
- NM_001407689.1:c.3112T>G
- NM_001407690.1:c.3112T>G
- NM_001407691.1:c.3112T>G
- NM_001407692.1:c.3097T>G
- NM_001407694.1:c.3097T>G
- NM_001407695.1:c.3097T>G
- NM_001407696.1:c.3097T>G
- NM_001407697.1:c.3097T>G
- NM_001407698.1:c.3097T>G
- NM_001407724.1:c.3097T>G
- NM_001407725.1:c.3097T>G
- NM_001407726.1:c.3097T>G
- NM_001407727.1:c.3097T>G
- NM_001407728.1:c.3097T>G
- NM_001407729.1:c.3097T>G
- NM_001407730.1:c.3097T>G
- NM_001407731.1:c.3097T>G
- NM_001407732.1:c.3097T>G
- NM_001407733.1:c.3097T>G
- NM_001407734.1:c.3097T>G
- NM_001407735.1:c.3097T>G
- NM_001407736.1:c.3097T>G
- NM_001407737.1:c.3097T>G
- NM_001407738.1:c.3097T>G
- NM_001407739.1:c.3097T>G
- NM_001407740.1:c.3094T>G
- NM_001407741.1:c.3094T>G
- NM_001407742.1:c.3094T>G
- NM_001407743.1:c.3094T>G
- NM_001407744.1:c.3094T>G
- NM_001407745.1:c.3094T>G
- NM_001407746.1:c.3094T>G
- NM_001407747.1:c.3094T>G
- NM_001407748.1:c.3094T>G
- NM_001407749.1:c.3094T>G
- NM_001407750.1:c.3097T>G
- NM_001407751.1:c.3097T>G
- NM_001407752.1:c.3097T>G
- NM_001407838.1:c.3094T>G
- NM_001407839.1:c.3094T>G
- NM_001407841.1:c.3094T>G
- NM_001407842.1:c.3094T>G
- NM_001407843.1:c.3094T>G
- NM_001407844.1:c.3094T>G
- NM_001407845.1:c.3094T>G
- NM_001407846.1:c.3094T>G
- NM_001407847.1:c.3094T>G
- NM_001407848.1:c.3094T>G
- NM_001407849.1:c.3094T>G
- NM_001407850.1:c.3097T>G
- NM_001407851.1:c.3097T>G
- NM_001407852.1:c.3097T>G
- NM_001407853.1:c.3025T>G
- NM_001407854.1:c.3238T>G
- NM_001407858.1:c.3238T>G
- NM_001407859.1:c.3238T>G
- NM_001407860.1:c.3235T>G
- NM_001407861.1:c.3235T>G
- NM_001407862.1:c.3037T>G
- NM_001407863.1:c.3115T>G
- NM_001407874.1:c.3034T>G
- NM_001407875.1:c.3034T>G
- NM_001407879.1:c.3028T>G
- NM_001407881.1:c.3028T>G
- NM_001407882.1:c.3028T>G
- NM_001407884.1:c.3028T>G
- NM_001407885.1:c.3028T>G
- NM_001407886.1:c.3028T>G
- NM_001407887.1:c.3028T>G
- NM_001407889.1:c.3028T>G
- NM_001407894.1:c.3025T>G
- NM_001407895.1:c.3025T>G
- NM_001407896.1:c.3025T>G
- NM_001407897.1:c.3025T>G
- NM_001407898.1:c.3025T>G
- NM_001407899.1:c.3025T>G
- NM_001407900.1:c.3028T>G
- NM_001407902.1:c.3028T>G
- NM_001407904.1:c.3028T>G
- NM_001407906.1:c.3028T>G
- NM_001407907.1:c.3028T>G
- NM_001407908.1:c.3028T>G
- NM_001407909.1:c.3028T>G
- NM_001407910.1:c.3028T>G
- NM_001407915.1:c.3025T>G
- NM_001407916.1:c.3025T>G
- NM_001407917.1:c.3025T>G
- NM_001407918.1:c.3025T>G
- NM_001407919.1:c.3115T>G
- NM_001407920.1:c.2974T>G
- NM_001407921.1:c.2974T>G
- NM_001407922.1:c.2974T>G
- NM_001407923.1:c.2974T>G
- NM_001407924.1:c.2974T>G
- NM_001407925.1:c.2974T>G
- NM_001407926.1:c.2974T>G
- NM_001407927.1:c.2974T>G
- NM_001407928.1:c.2974T>G
- NM_001407929.1:c.2974T>G
- NM_001407930.1:c.2971T>G
- NM_001407931.1:c.2971T>G
- NM_001407932.1:c.2971T>G
- NM_001407933.1:c.2974T>G
- NM_001407934.1:c.2971T>G
- NM_001407935.1:c.2974T>G
- NM_001407936.1:c.2971T>G
- NM_001407937.1:c.3115T>G
- NM_001407938.1:c.3115T>G
- NM_001407939.1:c.3115T>G
- NM_001407940.1:c.3112T>G
- NM_001407941.1:c.3112T>G
- NM_001407942.1:c.3097T>G
- NM_001407943.1:c.3094T>G
- NM_001407944.1:c.3097T>G
- NM_001407945.1:c.3097T>G
- NM_001407946.1:c.2905T>G
- NM_001407947.1:c.2905T>G
- NM_001407948.1:c.2905T>G
- NM_001407949.1:c.2905T>G
- NM_001407950.1:c.2905T>G
- NM_001407951.1:c.2905T>G
- NM_001407952.1:c.2905T>G
- NM_001407953.1:c.2905T>G
- NM_001407954.1:c.2902T>G
- NM_001407955.1:c.2902T>G
- NM_001407956.1:c.2902T>G
- NM_001407957.1:c.2905T>G
- NM_001407958.1:c.2902T>G
- NM_001407959.1:c.2857T>G
- NM_001407960.1:c.2857T>G
- NM_001407962.1:c.2854T>G
- NM_001407963.1:c.2857T>G
- NM_001407964.1:c.3094T>G
- NM_001407965.1:c.2734T>G
- NM_001407966.1:c.2350T>G
- NM_001407967.1:c.2350T>G
- NM_001407968.1:c.788-154T>G
- NM_001407969.1:c.788-154T>G
- NM_001407970.1:c.788-1261T>G
- NM_001407971.1:c.788-1261T>G
- NM_001407972.1:c.785-1261T>G
- NM_001407973.1:c.788-1261T>G
- NM_001407974.1:c.788-1261T>G
- NM_001407975.1:c.788-1261T>G
- NM_001407976.1:c.788-1261T>G
- NM_001407977.1:c.788-1261T>G
- NM_001407978.1:c.788-1261T>G
- NM_001407979.1:c.788-1261T>G
- NM_001407980.1:c.788-1261T>G
- NM_001407981.1:c.788-1261T>G
- NM_001407982.1:c.788-1261T>G
- NM_001407983.1:c.788-1261T>G
- NM_001407984.1:c.785-1261T>G
- NM_001407985.1:c.785-1261T>G
- NM_001407986.1:c.785-1261T>G
- NM_001407990.1:c.788-1261T>G
- NM_001407991.1:c.785-1261T>G
- NM_001407992.1:c.785-1261T>G
- NM_001407993.1:c.788-1261T>G
- NM_001408392.1:c.785-1261T>G
- NM_001408396.1:c.785-1261T>G
- NM_001408397.1:c.785-1261T>G
- NM_001408398.1:c.785-1261T>G
- NM_001408399.1:c.785-1261T>G
- NM_001408400.1:c.785-1261T>G
- NM_001408401.1:c.785-1261T>G
- NM_001408402.1:c.785-1261T>G
- NM_001408403.1:c.788-1261T>G
- NM_001408404.1:c.788-1261T>G
- NM_001408406.1:c.791-1270T>G
- NM_001408407.1:c.785-1261T>G
- NM_001408408.1:c.779-1261T>G
- NM_001408409.1:c.710-1261T>G
- NM_001408410.1:c.647-1261T>G
- NM_001408411.1:c.710-1261T>G
- NM_001408412.1:c.710-1261T>G
- NM_001408413.1:c.707-1261T>G
- NM_001408414.1:c.710-1261T>G
- NM_001408415.1:c.710-1261T>G
- NM_001408416.1:c.707-1261T>G
- NM_001408418.1:c.671-1261T>G
- NM_001408419.1:c.671-1261T>G
- NM_001408420.1:c.671-1261T>G
- NM_001408421.1:c.668-1261T>G
- NM_001408422.1:c.671-1261T>G
- NM_001408423.1:c.671-1261T>G
- NM_001408424.1:c.668-1261T>G
- NM_001408425.1:c.665-1261T>G
- NM_001408426.1:c.665-1261T>G
- NM_001408427.1:c.665-1261T>G
- NM_001408428.1:c.665-1261T>G
- NM_001408429.1:c.665-1261T>G
- NM_001408430.1:c.665-1261T>G
- NM_001408431.1:c.668-1261T>G
- NM_001408432.1:c.662-1261T>G
- NM_001408433.1:c.662-1261T>G
- NM_001408434.1:c.662-1261T>G
- NM_001408435.1:c.662-1261T>G
- NM_001408436.1:c.665-1261T>G
- NM_001408437.1:c.665-1261T>G
- NM_001408438.1:c.665-1261T>G
- NM_001408439.1:c.665-1261T>G
- NM_001408440.1:c.665-1261T>G
- NM_001408441.1:c.665-1261T>G
- NM_001408442.1:c.665-1261T>G
- NM_001408443.1:c.665-1261T>G
- NM_001408444.1:c.665-1261T>G
- NM_001408445.1:c.662-1261T>G
- NM_001408446.1:c.662-1261T>G
- NM_001408447.1:c.662-1261T>G
- NM_001408448.1:c.662-1261T>G
- NM_001408450.1:c.662-1261T>G
- NM_001408451.1:c.653-1261T>G
- NM_001408452.1:c.647-1261T>G
- NM_001408453.1:c.647-1261T>G
- NM_001408454.1:c.647-1261T>G
- NM_001408455.1:c.647-1261T>G
- NM_001408456.1:c.647-1261T>G
- NM_001408457.1:c.647-1261T>G
- NM_001408458.1:c.647-1261T>G
- NM_001408459.1:c.647-1261T>G
- NM_001408460.1:c.647-1261T>G
- NM_001408461.1:c.647-1261T>G
- NM_001408462.1:c.644-1261T>G
- NM_001408463.1:c.644-1261T>G
- NM_001408464.1:c.644-1261T>G
- NM_001408465.1:c.644-1261T>G
- NM_001408466.1:c.647-1261T>G
- NM_001408467.1:c.647-1261T>G
- NM_001408468.1:c.644-1261T>G
- NM_001408469.1:c.647-1261T>G
- NM_001408470.1:c.644-1261T>G
- NM_001408472.1:c.788-1261T>G
- NM_001408473.1:c.785-1261T>G
- NM_001408474.1:c.587-1261T>G
- NM_001408475.1:c.584-1261T>G
- NM_001408476.1:c.587-1261T>G
- NM_001408478.1:c.578-1261T>G
- NM_001408479.1:c.578-1261T>G
- NM_001408480.1:c.578-1261T>G
- NM_001408481.1:c.578-1261T>G
- NM_001408482.1:c.578-1261T>G
- NM_001408483.1:c.578-1261T>G
- NM_001408484.1:c.578-1261T>G
- NM_001408485.1:c.578-1261T>G
- NM_001408489.1:c.578-1261T>G
- NM_001408490.1:c.575-1261T>G
- NM_001408491.1:c.575-1261T>G
- NM_001408492.1:c.578-1261T>G
- NM_001408493.1:c.575-1261T>G
- NM_001408494.1:c.548-1261T>G
- NM_001408495.1:c.545-1261T>G
- NM_001408496.1:c.524-1261T>G
- NM_001408497.1:c.524-1261T>G
- NM_001408498.1:c.524-1261T>G
- NM_001408499.1:c.524-1261T>G
- NM_001408500.1:c.524-1261T>G
- NM_001408501.1:c.524-1261T>G
- NM_001408502.1:c.455-1261T>G
- NM_001408503.1:c.521-1261T>G
- NM_001408504.1:c.521-1261T>G
- NM_001408505.1:c.521-1261T>G
- NM_001408506.1:c.461-1261T>G
- NM_001408507.1:c.461-1261T>G
- NM_001408508.1:c.452-1261T>G
- NM_001408509.1:c.452-1261T>G
- NM_001408510.1:c.407-1261T>G
- NM_001408511.1:c.404-1261T>G
- NM_001408512.1:c.284-1261T>G
- NM_001408513.1:c.578-1261T>G
- NM_001408514.1:c.578-1261T>G
- NM_007294.4:c.3238T>GMANE SELECT
- NM_007297.4:c.3097T>G
- NM_007298.4:c.788-1261T>G
- NM_007299.4:c.788-1261T>G
- NM_007300.4:c.3238T>G
- NP_001394500.1:p.Leu1009Val
- NP_001394510.1:p.Leu1080Val
- NP_001394511.1:p.Leu1080Val
- NP_001394512.1:p.Leu1080Val
- NP_001394514.1:p.Leu1080Val
- NP_001394516.1:p.Leu1079Val
- NP_001394519.1:p.Leu1079Val
- NP_001394520.1:p.Leu1079Val
- NP_001394522.1:p.Leu1080Val
- NP_001394523.1:p.Leu1080Val
- NP_001394525.1:p.Leu1080Val
- NP_001394526.1:p.Leu1080Val
- NP_001394527.1:p.Leu1080Val
- NP_001394531.1:p.Leu1080Val
- NP_001394532.1:p.Leu1080Val
- NP_001394534.1:p.Leu1080Val
- NP_001394539.1:p.Leu1079Val
- NP_001394540.1:p.Leu1079Val
- NP_001394541.1:p.Leu1079Val
- NP_001394542.1:p.Leu1079Val
- NP_001394543.1:p.Leu1079Val
- NP_001394544.1:p.Leu1079Val
- NP_001394545.1:p.Leu1080Val
- NP_001394546.1:p.Leu1080Val
- NP_001394547.1:p.Leu1080Val
- NP_001394548.1:p.Leu1080Val
- NP_001394549.1:p.Leu1080Val
- NP_001394550.1:p.Leu1080Val
- NP_001394551.1:p.Leu1080Val
- NP_001394552.1:p.Leu1080Val
- NP_001394553.1:p.Leu1080Val
- NP_001394554.1:p.Leu1080Val
- NP_001394555.1:p.Leu1080Val
- NP_001394556.1:p.Leu1079Val
- NP_001394557.1:p.Leu1079Val
- NP_001394558.1:p.Leu1079Val
- NP_001394559.1:p.Leu1079Val
- NP_001394560.1:p.Leu1079Val
- NP_001394561.1:p.Leu1079Val
- NP_001394562.1:p.Leu1079Val
- NP_001394563.1:p.Leu1079Val
- NP_001394564.1:p.Leu1079Val
- NP_001394565.1:p.Leu1079Val
- NP_001394566.1:p.Leu1079Val
- NP_001394567.1:p.Leu1079Val
- NP_001394568.1:p.Leu1080Val
- NP_001394569.1:p.Leu1080Val
- NP_001394570.1:p.Leu1080Val
- NP_001394571.1:p.Leu1080Val
- NP_001394573.1:p.Leu1079Val
- NP_001394574.1:p.Leu1079Val
- NP_001394575.1:p.Leu1077Val
- NP_001394576.1:p.Leu1077Val
- NP_001394577.1:p.Leu1039Val
- NP_001394578.1:p.Leu1038Val
- NP_001394581.1:p.Leu1080Val
- NP_001394582.1:p.Leu1054Val
- NP_001394583.1:p.Leu1054Val
- NP_001394584.1:p.Leu1054Val
- NP_001394585.1:p.Leu1054Val
- NP_001394586.1:p.Leu1054Val
- NP_001394587.1:p.Leu1054Val
- NP_001394588.1:p.Leu1053Val
- NP_001394589.1:p.Leu1053Val
- NP_001394590.1:p.Leu1053Val
- NP_001394591.1:p.Leu1053Val
- NP_001394592.1:p.Leu1054Val
- NP_001394593.1:p.Leu1039Val
- NP_001394594.1:p.Leu1039Val
- NP_001394595.1:p.Leu1039Val
- NP_001394596.1:p.Leu1039Val
- NP_001394597.1:p.Leu1039Val
- NP_001394598.1:p.Leu1039Val
- NP_001394599.1:p.Leu1038Val
- NP_001394600.1:p.Leu1038Val
- NP_001394601.1:p.Leu1038Val
- NP_001394602.1:p.Leu1038Val
- NP_001394603.1:p.Leu1039Val
- NP_001394604.1:p.Leu1039Val
- NP_001394605.1:p.Leu1039Val
- NP_001394606.1:p.Leu1039Val
- NP_001394607.1:p.Leu1039Val
- NP_001394608.1:p.Leu1039Val
- NP_001394609.1:p.Leu1039Val
- NP_001394610.1:p.Leu1039Val
- NP_001394611.1:p.Leu1039Val
- NP_001394612.1:p.Leu1039Val
- NP_001394613.1:p.Leu1080Val
- NP_001394614.1:p.Leu1038Val
- NP_001394615.1:p.Leu1038Val
- NP_001394616.1:p.Leu1038Val
- NP_001394617.1:p.Leu1038Val
- NP_001394618.1:p.Leu1038Val
- NP_001394619.1:p.Leu1038Val
- NP_001394620.1:p.Leu1038Val
- NP_001394621.1:p.Leu1033Val
- NP_001394623.1:p.Leu1033Val
- NP_001394624.1:p.Leu1033Val
- NP_001394625.1:p.Leu1033Val
- NP_001394626.1:p.Leu1033Val
- NP_001394627.1:p.Leu1033Val
- NP_001394653.1:p.Leu1033Val
- NP_001394654.1:p.Leu1033Val
- NP_001394655.1:p.Leu1033Val
- NP_001394656.1:p.Leu1033Val
- NP_001394657.1:p.Leu1033Val
- NP_001394658.1:p.Leu1033Val
- NP_001394659.1:p.Leu1033Val
- NP_001394660.1:p.Leu1033Val
- NP_001394661.1:p.Leu1033Val
- NP_001394662.1:p.Leu1033Val
- NP_001394663.1:p.Leu1033Val
- NP_001394664.1:p.Leu1033Val
- NP_001394665.1:p.Leu1033Val
- NP_001394666.1:p.Leu1033Val
- NP_001394667.1:p.Leu1033Val
- NP_001394668.1:p.Leu1033Val
- NP_001394669.1:p.Leu1032Val
- NP_001394670.1:p.Leu1032Val
- NP_001394671.1:p.Leu1032Val
- NP_001394672.1:p.Leu1032Val
- NP_001394673.1:p.Leu1032Val
- NP_001394674.1:p.Leu1032Val
- NP_001394675.1:p.Leu1032Val
- NP_001394676.1:p.Leu1032Val
- NP_001394677.1:p.Leu1032Val
- NP_001394678.1:p.Leu1032Val
- NP_001394679.1:p.Leu1033Val
- NP_001394680.1:p.Leu1033Val
- NP_001394681.1:p.Leu1033Val
- NP_001394767.1:p.Leu1032Val
- NP_001394768.1:p.Leu1032Val
- NP_001394770.1:p.Leu1032Val
- NP_001394771.1:p.Leu1032Val
- NP_001394772.1:p.Leu1032Val
- NP_001394773.1:p.Leu1032Val
- NP_001394774.1:p.Leu1032Val
- NP_001394775.1:p.Leu1032Val
- NP_001394776.1:p.Leu1032Val
- NP_001394777.1:p.Leu1032Val
- NP_001394778.1:p.Leu1032Val
- NP_001394779.1:p.Leu1033Val
- NP_001394780.1:p.Leu1033Val
- NP_001394781.1:p.Leu1033Val
- NP_001394782.1:p.Leu1009Val
- NP_001394783.1:p.Leu1080Val
- NP_001394787.1:p.Leu1080Val
- NP_001394788.1:p.Leu1080Val
- NP_001394789.1:p.Leu1079Val
- NP_001394790.1:p.Leu1079Val
- NP_001394791.1:p.Leu1013Val
- NP_001394792.1:p.Leu1039Val
- NP_001394803.1:p.Leu1012Val
- NP_001394804.1:p.Leu1012Val
- NP_001394808.1:p.Leu1010Val
- NP_001394810.1:p.Leu1010Val
- NP_001394811.1:p.Leu1010Val
- NP_001394813.1:p.Leu1010Val
- NP_001394814.1:p.Leu1010Val
- NP_001394815.1:p.Leu1010Val
- NP_001394816.1:p.Leu1010Val
- NP_001394818.1:p.Leu1010Val
- NP_001394823.1:p.Leu1009Val
- NP_001394824.1:p.Leu1009Val
- NP_001394825.1:p.Leu1009Val
- NP_001394826.1:p.Leu1009Val
- NP_001394827.1:p.Leu1009Val
- NP_001394828.1:p.Leu1009Val
- NP_001394829.1:p.Leu1010Val
- NP_001394831.1:p.Leu1010Val
- NP_001394833.1:p.Leu1010Val
- NP_001394835.1:p.Leu1010Val
- NP_001394836.1:p.Leu1010Val
- NP_001394837.1:p.Leu1010Val
- NP_001394838.1:p.Leu1010Val
- NP_001394839.1:p.Leu1010Val
- NP_001394844.1:p.Leu1009Val
- NP_001394845.1:p.Leu1009Val
- NP_001394846.1:p.Leu1009Val
- NP_001394847.1:p.Leu1009Val
- NP_001394848.1:p.Leu1039Val
- NP_001394849.1:p.Leu992Val
- NP_001394850.1:p.Leu992Val
- NP_001394851.1:p.Leu992Val
- NP_001394852.1:p.Leu992Val
- NP_001394853.1:p.Leu992Val
- NP_001394854.1:p.Leu992Val
- NP_001394855.1:p.Leu992Val
- NP_001394856.1:p.Leu992Val
- NP_001394857.1:p.Leu992Val
- NP_001394858.1:p.Leu992Val
- NP_001394859.1:p.Leu991Val
- NP_001394860.1:p.Leu991Val
- NP_001394861.1:p.Leu991Val
- NP_001394862.1:p.Leu992Val
- NP_001394863.1:p.Leu991Val
- NP_001394864.1:p.Leu992Val
- NP_001394865.1:p.Leu991Val
- NP_001394866.1:p.Leu1039Val
- NP_001394867.1:p.Leu1039Val
- NP_001394868.1:p.Leu1039Val
- NP_001394869.1:p.Leu1038Val
- NP_001394870.1:p.Leu1038Val
- NP_001394871.1:p.Leu1033Val
- NP_001394872.1:p.Leu1032Val
- NP_001394873.1:p.Leu1033Val
- NP_001394874.1:p.Leu1033Val
- NP_001394875.1:p.Leu969Val
- NP_001394876.1:p.Leu969Val
- NP_001394877.1:p.Leu969Val
- NP_001394878.1:p.Leu969Val
- NP_001394879.1:p.Leu969Val
- NP_001394880.1:p.Leu969Val
- NP_001394881.1:p.Leu969Val
- NP_001394882.1:p.Leu969Val
- NP_001394883.1:p.Leu968Val
- NP_001394884.1:p.Leu968Val
- NP_001394885.1:p.Leu968Val
- NP_001394886.1:p.Leu969Val
- NP_001394887.1:p.Leu968Val
- NP_001394888.1:p.Leu953Val
- NP_001394889.1:p.Leu953Val
- NP_001394891.1:p.Leu952Val
- NP_001394892.1:p.Leu953Val
- NP_001394893.1:p.Leu1032Val
- NP_001394894.1:p.Leu912Val
- NP_001394895.1:p.Leu784Val
- NP_001394896.1:p.Leu784Val
- NP_009225.1:p.Leu1080Val
- NP_009225.1:p.Leu1080Val
- NP_009228.2:p.Leu1033Val
- NP_009231.2:p.Leu1080Val
- LRG_292t1:c.3238T>G
- LRG_292:g.125691T>G
- LRG_292p1:p.Leu1080Val
- NC_000017.10:g.41244310A>C
- NM_007294.3:c.3238T>G
- NR_027676.1:n.3374T>G
This HGVS expression did not pass validation- Protein change:
- L1009V
- Links:
- dbSNP: rs754597283
- NCBI 1000 Genomes Browser:
- rs754597283
- Molecular consequence:
- NM_001407968.1:c.788-154T>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407969.1:c.788-154T>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407970.1:c.788-1261T>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407971.1:c.788-1261T>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407972.1:c.785-1261T>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407973.1:c.788-1261T>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407974.1:c.788-1261T>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407975.1:c.788-1261T>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407976.1:c.788-1261T>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407977.1:c.788-1261T>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407978.1:c.788-1261T>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407979.1:c.788-1261T>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407980.1:c.788-1261T>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407981.1:c.788-1261T>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407982.1:c.788-1261T>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407983.1:c.788-1261T>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407984.1:c.785-1261T>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407985.1:c.785-1261T>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407986.1:c.785-1261T>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407990.1:c.788-1261T>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407991.1:c.785-1261T>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407992.1:c.785-1261T>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407993.1:c.788-1261T>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408392.1:c.785-1261T>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408396.1:c.785-1261T>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408397.1:c.785-1261T>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408398.1:c.785-1261T>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408399.1:c.785-1261T>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408400.1:c.785-1261T>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408401.1:c.785-1261T>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408402.1:c.785-1261T>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408403.1:c.788-1261T>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408404.1:c.788-1261T>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408406.1:c.791-1270T>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408407.1:c.785-1261T>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408408.1:c.779-1261T>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408409.1:c.710-1261T>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408410.1:c.647-1261T>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408411.1:c.710-1261T>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408412.1:c.710-1261T>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408413.1:c.707-1261T>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408414.1:c.710-1261T>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408415.1:c.710-1261T>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408416.1:c.707-1261T>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408418.1:c.671-1261T>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408419.1:c.671-1261T>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408420.1:c.671-1261T>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408421.1:c.668-1261T>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408422.1:c.671-1261T>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408423.1:c.671-1261T>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408424.1:c.668-1261T>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408425.1:c.665-1261T>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408426.1:c.665-1261T>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408427.1:c.665-1261T>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408428.1:c.665-1261T>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408429.1:c.665-1261T>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408430.1:c.665-1261T>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408431.1:c.668-1261T>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408432.1:c.662-1261T>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408433.1:c.662-1261T>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408434.1:c.662-1261T>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408435.1:c.662-1261T>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408436.1:c.665-1261T>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408437.1:c.665-1261T>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408438.1:c.665-1261T>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408439.1:c.665-1261T>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408440.1:c.665-1261T>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408441.1:c.665-1261T>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408442.1:c.665-1261T>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408443.1:c.665-1261T>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408444.1:c.665-1261T>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408445.1:c.662-1261T>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408446.1:c.662-1261T>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408447.1:c.662-1261T>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408448.1:c.662-1261T>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408450.1:c.662-1261T>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408451.1:c.653-1261T>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408452.1:c.647-1261T>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408453.1:c.647-1261T>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408454.1:c.647-1261T>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408455.1:c.647-1261T>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408456.1:c.647-1261T>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408457.1:c.647-1261T>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408458.1:c.647-1261T>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408459.1:c.647-1261T>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408460.1:c.647-1261T>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408461.1:c.647-1261T>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408462.1:c.644-1261T>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408463.1:c.644-1261T>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408464.1:c.644-1261T>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408465.1:c.644-1261T>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408466.1:c.647-1261T>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408467.1:c.647-1261T>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408468.1:c.644-1261T>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408469.1:c.647-1261T>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408470.1:c.644-1261T>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408472.1:c.788-1261T>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408473.1:c.785-1261T>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408474.1:c.587-1261T>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408475.1:c.584-1261T>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408476.1:c.587-1261T>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408478.1:c.578-1261T>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408479.1:c.578-1261T>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408480.1:c.578-1261T>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408481.1:c.578-1261T>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408482.1:c.578-1261T>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408483.1:c.578-1261T>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408484.1:c.578-1261T>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408485.1:c.578-1261T>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408489.1:c.578-1261T>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408490.1:c.575-1261T>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408491.1:c.575-1261T>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408492.1:c.578-1261T>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408493.1:c.575-1261T>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408494.1:c.548-1261T>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408495.1:c.545-1261T>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408496.1:c.524-1261T>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408497.1:c.524-1261T>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408498.1:c.524-1261T>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408499.1:c.524-1261T>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408500.1:c.524-1261T>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408501.1:c.524-1261T>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408502.1:c.455-1261T>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408503.1:c.521-1261T>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408504.1:c.521-1261T>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408505.1:c.521-1261T>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408506.1:c.461-1261T>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408507.1:c.461-1261T>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408508.1:c.452-1261T>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408509.1:c.452-1261T>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408510.1:c.407-1261T>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408511.1:c.404-1261T>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408512.1:c.284-1261T>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408513.1:c.578-1261T>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408514.1:c.578-1261T>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_007298.4:c.788-1261T>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_007299.4:c.788-1261T>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407571.1:c.3025T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407581.1:c.3238T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407582.1:c.3238T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407583.1:c.3238T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407585.1:c.3238T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407587.1:c.3235T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407590.1:c.3235T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407591.1:c.3235T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407593.1:c.3238T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407594.1:c.3238T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407596.1:c.3238T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407597.1:c.3238T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407598.1:c.3238T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407602.1:c.3238T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407603.1:c.3238T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407605.1:c.3238T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407610.1:c.3235T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407611.1:c.3235T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407612.1:c.3235T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407613.1:c.3235T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407614.1:c.3235T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407615.1:c.3235T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407616.1:c.3238T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407617.1:c.3238T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407618.1:c.3238T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407619.1:c.3238T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407620.1:c.3238T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407621.1:c.3238T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407622.1:c.3238T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407623.1:c.3238T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407624.1:c.3238T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407625.1:c.3238T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407626.1:c.3238T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407627.1:c.3235T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407628.1:c.3235T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407629.1:c.3235T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407630.1:c.3235T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407631.1:c.3235T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407632.1:c.3235T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407633.1:c.3235T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407634.1:c.3235T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407635.1:c.3235T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407636.1:c.3235T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407637.1:c.3235T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407638.1:c.3235T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407639.1:c.3238T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407640.1:c.3238T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407641.1:c.3238T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407642.1:c.3238T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407644.1:c.3235T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407645.1:c.3235T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407646.1:c.3229T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407647.1:c.3229T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407648.1:c.3115T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407649.1:c.3112T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407652.1:c.3238T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407653.1:c.3160T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407654.1:c.3160T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407655.1:c.3160T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407656.1:c.3160T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407657.1:c.3160T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407658.1:c.3160T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407659.1:c.3157T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407660.1:c.3157T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407661.1:c.3157T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407662.1:c.3157T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407663.1:c.3160T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407664.1:c.3115T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407665.1:c.3115T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407666.1:c.3115T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407667.1:c.3115T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407668.1:c.3115T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407669.1:c.3115T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407670.1:c.3112T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407671.1:c.3112T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407672.1:c.3112T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407673.1:c.3112T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407674.1:c.3115T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407675.1:c.3115T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407676.1:c.3115T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407677.1:c.3115T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407678.1:c.3115T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407679.1:c.3115T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407680.1:c.3115T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407681.1:c.3115T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407682.1:c.3115T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407683.1:c.3115T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407684.1:c.3238T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407685.1:c.3112T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407686.1:c.3112T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407687.1:c.3112T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407688.1:c.3112T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407689.1:c.3112T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407690.1:c.3112T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407691.1:c.3112T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407692.1:c.3097T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407694.1:c.3097T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407695.1:c.3097T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407696.1:c.3097T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407697.1:c.3097T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407698.1:c.3097T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407724.1:c.3097T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407725.1:c.3097T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407726.1:c.3097T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407727.1:c.3097T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407728.1:c.3097T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407729.1:c.3097T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407730.1:c.3097T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407731.1:c.3097T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407732.1:c.3097T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407733.1:c.3097T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407734.1:c.3097T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407735.1:c.3097T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407736.1:c.3097T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407737.1:c.3097T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407738.1:c.3097T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407739.1:c.3097T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407740.1:c.3094T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407741.1:c.3094T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407742.1:c.3094T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407743.1:c.3094T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407744.1:c.3094T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407745.1:c.3094T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407746.1:c.3094T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407747.1:c.3094T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407748.1:c.3094T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407749.1:c.3094T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407750.1:c.3097T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407751.1:c.3097T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407752.1:c.3097T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407838.1:c.3094T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407839.1:c.3094T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407841.1:c.3094T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407842.1:c.3094T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407843.1:c.3094T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407844.1:c.3094T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407845.1:c.3094T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407846.1:c.3094T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407847.1:c.3094T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407848.1:c.3094T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407849.1:c.3094T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407850.1:c.3097T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407851.1:c.3097T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407852.1:c.3097T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407853.1:c.3025T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407854.1:c.3238T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407858.1:c.3238T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407859.1:c.3238T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407860.1:c.3235T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407861.1:c.3235T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407862.1:c.3037T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407863.1:c.3115T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407874.1:c.3034T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407875.1:c.3034T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407879.1:c.3028T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407881.1:c.3028T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407882.1:c.3028T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407884.1:c.3028T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407885.1:c.3028T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407886.1:c.3028T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407887.1:c.3028T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407889.1:c.3028T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407894.1:c.3025T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407895.1:c.3025T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407896.1:c.3025T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407897.1:c.3025T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407898.1:c.3025T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407899.1:c.3025T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407900.1:c.3028T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407902.1:c.3028T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407904.1:c.3028T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407906.1:c.3028T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407907.1:c.3028T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407908.1:c.3028T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407909.1:c.3028T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407910.1:c.3028T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407915.1:c.3025T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407916.1:c.3025T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407917.1:c.3025T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407918.1:c.3025T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407919.1:c.3115T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407920.1:c.2974T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407921.1:c.2974T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407922.1:c.2974T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407923.1:c.2974T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407924.1:c.2974T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407925.1:c.2974T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407926.1:c.2974T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407927.1:c.2974T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407928.1:c.2974T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407929.1:c.2974T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407930.1:c.2971T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407931.1:c.2971T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407932.1:c.2971T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407933.1:c.2974T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407934.1:c.2971T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407935.1:c.2974T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407936.1:c.2971T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407937.1:c.3115T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407938.1:c.3115T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407939.1:c.3115T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407940.1:c.3112T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407941.1:c.3112T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407942.1:c.3097T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407943.1:c.3094T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407944.1:c.3097T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407945.1:c.3097T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407946.1:c.2905T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407947.1:c.2905T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407948.1:c.2905T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407949.1:c.2905T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407950.1:c.2905T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407951.1:c.2905T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407952.1:c.2905T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407953.1:c.2905T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407954.1:c.2902T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407955.1:c.2902T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407956.1:c.2902T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407957.1:c.2905T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407958.1:c.2902T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407959.1:c.2857T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407960.1:c.2857T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407962.1:c.2854T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407963.1:c.2857T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407964.1:c.3094T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407965.1:c.2734T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407966.1:c.2350T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407967.1:c.2350T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_007294.4:c.3238T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_007297.4:c.3097T>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_007300.4:c.3238T>G - missense variant - [Sequence Ontology: SO:0001583]
Condition(s)
- Name:
- Hereditary cancer-predisposing syndrome
- Synonyms:
- Neoplastic Syndromes, Hereditary; Tumor predisposition; Cancer predisposition; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0015356; MeSH: D009386; MedGen: C0027672
-
Rattus norvegicus neural EGFL like 1 (Nell1), mRNA
Rattus norvegicus neural EGFL like 1 (Nell1), mRNAgi|13592010|ref|NM_031069.1|Nucleotide
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See more...Assertion and evidence details
Submission Accession | Submitter | Review Status (Assertion method) | Clinical Significance (Last evaluated) | Origin | Method | Citations |
---|---|---|---|---|---|---|
SCV003850687 | 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 | |
SCV004004382 | Ambry Genetics | criteria provided, single submitter (Ambry Variant Classification Scheme 2023) | Uncertain significance (Jun 12, 2023) | germline | clinical testing |
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
Systematic misclassification of missense variants in BRCA1 and BRCA2 "coldspots".
Dines JN, Shirts BH, Slavin TP, Walsh T, King MC, Fowler DM, Pritchard CC.
Genet Med. 2020 May;22(5):825-830. doi: 10.1038/s41436-019-0740-6. Epub 2020 Jan 8.
- PMID:
- 31911673
- PMCID:
- PMC7200594
Details of each submission
From University of Washington Department of Laboratory Medicine, University of Washington, SCV003850687.1
# | 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 |
From Ambry Genetics, SCV004004382.2
# | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
---|---|---|---|---|---|---|
1 | not provided | not provided | not provided | not provided | clinical testing | not provided |
Description
The p.L1080V variant (also known as c.3238T>G), located in coding exon 9 of the BRCA1 gene, results from a T to G substitution at nucleotide position 3238. The leucine at codon 1080 is replaced by valine, an amino acid with highly similar properties. This amino acid position is 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 |
Last Updated: Oct 8, 2024