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NM_007294.4(BRCA1):c.2999A>T (p.Glu1000Val) AND Hereditary cancer-predisposing syndrome

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Feb 28, 2024
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV004519362.1

Allele description [Variation Report for NM_007294.4(BRCA1):c.2999A>T (p.Glu1000Val)]

NM_007294.4(BRCA1):c.2999A>T (p.Glu1000Val)

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.2999A>T (p.Glu1000Val)
HGVS:
  • NC_000017.11:g.43092532T>A
  • NG_005905.2:g.125452A>T
  • NM_001407571.1:c.2786A>T
  • NM_001407581.1:c.2999A>T
  • NM_001407582.1:c.2999A>T
  • NM_001407583.1:c.2999A>T
  • NM_001407585.1:c.2999A>T
  • NM_001407587.1:c.2996A>T
  • NM_001407590.1:c.2996A>T
  • NM_001407591.1:c.2996A>T
  • NM_001407593.1:c.2999A>T
  • NM_001407594.1:c.2999A>T
  • NM_001407596.1:c.2999A>T
  • NM_001407597.1:c.2999A>T
  • NM_001407598.1:c.2999A>T
  • NM_001407602.1:c.2999A>T
  • NM_001407603.1:c.2999A>T
  • NM_001407605.1:c.2999A>T
  • NM_001407610.1:c.2996A>T
  • NM_001407611.1:c.2996A>T
  • NM_001407612.1:c.2996A>T
  • NM_001407613.1:c.2996A>T
  • NM_001407614.1:c.2996A>T
  • NM_001407615.1:c.2996A>T
  • NM_001407616.1:c.2999A>T
  • NM_001407617.1:c.2999A>T
  • NM_001407618.1:c.2999A>T
  • NM_001407619.1:c.2999A>T
  • NM_001407620.1:c.2999A>T
  • NM_001407621.1:c.2999A>T
  • NM_001407622.1:c.2999A>T
  • NM_001407623.1:c.2999A>T
  • NM_001407624.1:c.2999A>T
  • NM_001407625.1:c.2999A>T
  • NM_001407626.1:c.2999A>T
  • NM_001407627.1:c.2996A>T
  • NM_001407628.1:c.2996A>T
  • NM_001407629.1:c.2996A>T
  • NM_001407630.1:c.2996A>T
  • NM_001407631.1:c.2996A>T
  • NM_001407632.1:c.2996A>T
  • NM_001407633.1:c.2996A>T
  • NM_001407634.1:c.2996A>T
  • NM_001407635.1:c.2996A>T
  • NM_001407636.1:c.2996A>T
  • NM_001407637.1:c.2996A>T
  • NM_001407638.1:c.2996A>T
  • NM_001407639.1:c.2999A>T
  • NM_001407640.1:c.2999A>T
  • NM_001407641.1:c.2999A>T
  • NM_001407642.1:c.2999A>T
  • NM_001407644.1:c.2996A>T
  • NM_001407645.1:c.2996A>T
  • NM_001407646.1:c.2990A>T
  • NM_001407647.1:c.2990A>T
  • NM_001407648.1:c.2876A>T
  • NM_001407649.1:c.2873A>T
  • NM_001407652.1:c.2999A>T
  • NM_001407653.1:c.2921A>T
  • NM_001407654.1:c.2921A>T
  • NM_001407655.1:c.2921A>T
  • NM_001407656.1:c.2921A>T
  • NM_001407657.1:c.2921A>T
  • NM_001407658.1:c.2921A>T
  • NM_001407659.1:c.2918A>T
  • NM_001407660.1:c.2918A>T
  • NM_001407661.1:c.2918A>T
  • NM_001407662.1:c.2918A>T
  • NM_001407663.1:c.2921A>T
  • NM_001407664.1:c.2876A>T
  • NM_001407665.1:c.2876A>T
  • NM_001407666.1:c.2876A>T
  • NM_001407667.1:c.2876A>T
  • NM_001407668.1:c.2876A>T
  • NM_001407669.1:c.2876A>T
  • NM_001407670.1:c.2873A>T
  • NM_001407671.1:c.2873A>T
  • NM_001407672.1:c.2873A>T
  • NM_001407673.1:c.2873A>T
  • NM_001407674.1:c.2876A>T
  • NM_001407675.1:c.2876A>T
  • NM_001407676.1:c.2876A>T
  • NM_001407677.1:c.2876A>T
  • NM_001407678.1:c.2876A>T
  • NM_001407679.1:c.2876A>T
  • NM_001407680.1:c.2876A>T
  • NM_001407681.1:c.2876A>T
  • NM_001407682.1:c.2876A>T
  • NM_001407683.1:c.2876A>T
  • NM_001407684.1:c.2999A>T
  • NM_001407685.1:c.2873A>T
  • NM_001407686.1:c.2873A>T
  • NM_001407687.1:c.2873A>T
  • NM_001407688.1:c.2873A>T
  • NM_001407689.1:c.2873A>T
  • NM_001407690.1:c.2873A>T
  • NM_001407691.1:c.2873A>T
  • NM_001407692.1:c.2858A>T
  • NM_001407694.1:c.2858A>T
  • NM_001407695.1:c.2858A>T
  • NM_001407696.1:c.2858A>T
  • NM_001407697.1:c.2858A>T
  • NM_001407698.1:c.2858A>T
  • NM_001407724.1:c.2858A>T
  • NM_001407725.1:c.2858A>T
  • NM_001407726.1:c.2858A>T
  • NM_001407727.1:c.2858A>T
  • NM_001407728.1:c.2858A>T
  • NM_001407729.1:c.2858A>T
  • NM_001407730.1:c.2858A>T
  • NM_001407731.1:c.2858A>T
  • NM_001407732.1:c.2858A>T
  • NM_001407733.1:c.2858A>T
  • NM_001407734.1:c.2858A>T
  • NM_001407735.1:c.2858A>T
  • NM_001407736.1:c.2858A>T
  • NM_001407737.1:c.2858A>T
  • NM_001407738.1:c.2858A>T
  • NM_001407739.1:c.2858A>T
  • NM_001407740.1:c.2855A>T
  • NM_001407741.1:c.2855A>T
  • NM_001407742.1:c.2855A>T
  • NM_001407743.1:c.2855A>T
  • NM_001407744.1:c.2855A>T
  • NM_001407745.1:c.2855A>T
  • NM_001407746.1:c.2855A>T
  • NM_001407747.1:c.2855A>T
  • NM_001407748.1:c.2855A>T
  • NM_001407749.1:c.2855A>T
  • NM_001407750.1:c.2858A>T
  • NM_001407751.1:c.2858A>T
  • NM_001407752.1:c.2858A>T
  • NM_001407838.1:c.2855A>T
  • NM_001407839.1:c.2855A>T
  • NM_001407841.1:c.2855A>T
  • NM_001407842.1:c.2855A>T
  • NM_001407843.1:c.2855A>T
  • NM_001407844.1:c.2855A>T
  • NM_001407845.1:c.2855A>T
  • NM_001407846.1:c.2855A>T
  • NM_001407847.1:c.2855A>T
  • NM_001407848.1:c.2855A>T
  • NM_001407849.1:c.2855A>T
  • NM_001407850.1:c.2858A>T
  • NM_001407851.1:c.2858A>T
  • NM_001407852.1:c.2858A>T
  • NM_001407853.1:c.2786A>T
  • NM_001407854.1:c.2999A>T
  • NM_001407858.1:c.2999A>T
  • NM_001407859.1:c.2999A>T
  • NM_001407860.1:c.2996A>T
  • NM_001407861.1:c.2996A>T
  • NM_001407862.1:c.2798A>T
  • NM_001407863.1:c.2876A>T
  • NM_001407874.1:c.2795A>T
  • NM_001407875.1:c.2795A>T
  • NM_001407879.1:c.2789A>T
  • NM_001407881.1:c.2789A>T
  • NM_001407882.1:c.2789A>T
  • NM_001407884.1:c.2789A>T
  • NM_001407885.1:c.2789A>T
  • NM_001407886.1:c.2789A>T
  • NM_001407887.1:c.2789A>T
  • NM_001407889.1:c.2789A>T
  • NM_001407894.1:c.2786A>T
  • NM_001407895.1:c.2786A>T
  • NM_001407896.1:c.2786A>T
  • NM_001407897.1:c.2786A>T
  • NM_001407898.1:c.2786A>T
  • NM_001407899.1:c.2786A>T
  • NM_001407900.1:c.2789A>T
  • NM_001407902.1:c.2789A>T
  • NM_001407904.1:c.2789A>T
  • NM_001407906.1:c.2789A>T
  • NM_001407907.1:c.2789A>T
  • NM_001407908.1:c.2789A>T
  • NM_001407909.1:c.2789A>T
  • NM_001407910.1:c.2789A>T
  • NM_001407915.1:c.2786A>T
  • NM_001407916.1:c.2786A>T
  • NM_001407917.1:c.2786A>T
  • NM_001407918.1:c.2786A>T
  • NM_001407919.1:c.2876A>T
  • NM_001407920.1:c.2735A>T
  • NM_001407921.1:c.2735A>T
  • NM_001407922.1:c.2735A>T
  • NM_001407923.1:c.2735A>T
  • NM_001407924.1:c.2735A>T
  • NM_001407925.1:c.2735A>T
  • NM_001407926.1:c.2735A>T
  • NM_001407927.1:c.2735A>T
  • NM_001407928.1:c.2735A>T
  • NM_001407929.1:c.2735A>T
  • NM_001407930.1:c.2732A>T
  • NM_001407931.1:c.2732A>T
  • NM_001407932.1:c.2732A>T
  • NM_001407933.1:c.2735A>T
  • NM_001407934.1:c.2732A>T
  • NM_001407935.1:c.2735A>T
  • NM_001407936.1:c.2732A>T
  • NM_001407937.1:c.2876A>T
  • NM_001407938.1:c.2876A>T
  • NM_001407939.1:c.2876A>T
  • NM_001407940.1:c.2873A>T
  • NM_001407941.1:c.2873A>T
  • NM_001407942.1:c.2858A>T
  • NM_001407943.1:c.2855A>T
  • NM_001407944.1:c.2858A>T
  • NM_001407945.1:c.2858A>T
  • NM_001407946.1:c.2666A>T
  • NM_001407947.1:c.2666A>T
  • NM_001407948.1:c.2666A>T
  • NM_001407949.1:c.2666A>T
  • NM_001407950.1:c.2666A>T
  • NM_001407951.1:c.2666A>T
  • NM_001407952.1:c.2666A>T
  • NM_001407953.1:c.2666A>T
  • NM_001407954.1:c.2663A>T
  • NM_001407955.1:c.2663A>T
  • NM_001407956.1:c.2663A>T
  • NM_001407957.1:c.2666A>T
  • NM_001407958.1:c.2663A>T
  • NM_001407959.1:c.2618A>T
  • NM_001407960.1:c.2618A>T
  • NM_001407962.1:c.2615A>T
  • NM_001407963.1:c.2618A>T
  • NM_001407964.1:c.2855A>T
  • NM_001407965.1:c.2495A>T
  • NM_001407966.1:c.2111A>T
  • NM_001407967.1:c.2111A>T
  • NM_001407968.1:c.788-393A>T
  • NM_001407969.1:c.788-393A>T
  • NM_001407970.1:c.788-1500A>T
  • NM_001407971.1:c.788-1500A>T
  • NM_001407972.1:c.785-1500A>T
  • NM_001407973.1:c.788-1500A>T
  • NM_001407974.1:c.788-1500A>T
  • NM_001407975.1:c.788-1500A>T
  • NM_001407976.1:c.788-1500A>T
  • NM_001407977.1:c.788-1500A>T
  • NM_001407978.1:c.788-1500A>T
  • NM_001407979.1:c.788-1500A>T
  • NM_001407980.1:c.788-1500A>T
  • NM_001407981.1:c.788-1500A>T
  • NM_001407982.1:c.788-1500A>T
  • NM_001407983.1:c.788-1500A>T
  • NM_001407984.1:c.785-1500A>T
  • NM_001407985.1:c.785-1500A>T
  • NM_001407986.1:c.785-1500A>T
  • NM_001407990.1:c.788-1500A>T
  • NM_001407991.1:c.785-1500A>T
  • NM_001407992.1:c.785-1500A>T
  • NM_001407993.1:c.788-1500A>T
  • NM_001408392.1:c.785-1500A>T
  • NM_001408396.1:c.785-1500A>T
  • NM_001408397.1:c.785-1500A>T
  • NM_001408398.1:c.785-1500A>T
  • NM_001408399.1:c.785-1500A>T
  • NM_001408400.1:c.785-1500A>T
  • NM_001408401.1:c.785-1500A>T
  • NM_001408402.1:c.785-1500A>T
  • NM_001408403.1:c.788-1500A>T
  • NM_001408404.1:c.788-1500A>T
  • NM_001408406.1:c.791-1509A>T
  • NM_001408407.1:c.785-1500A>T
  • NM_001408408.1:c.779-1500A>T
  • NM_001408409.1:c.710-1500A>T
  • NM_001408410.1:c.647-1500A>T
  • NM_001408411.1:c.710-1500A>T
  • NM_001408412.1:c.710-1500A>T
  • NM_001408413.1:c.707-1500A>T
  • NM_001408414.1:c.710-1500A>T
  • NM_001408415.1:c.710-1500A>T
  • NM_001408416.1:c.707-1500A>T
  • NM_001408418.1:c.671-1500A>T
  • NM_001408419.1:c.671-1500A>T
  • NM_001408420.1:c.671-1500A>T
  • NM_001408421.1:c.668-1500A>T
  • NM_001408422.1:c.671-1500A>T
  • NM_001408423.1:c.671-1500A>T
  • NM_001408424.1:c.668-1500A>T
  • NM_001408425.1:c.665-1500A>T
  • NM_001408426.1:c.665-1500A>T
  • NM_001408427.1:c.665-1500A>T
  • NM_001408428.1:c.665-1500A>T
  • NM_001408429.1:c.665-1500A>T
  • NM_001408430.1:c.665-1500A>T
  • NM_001408431.1:c.668-1500A>T
  • NM_001408432.1:c.662-1500A>T
  • NM_001408433.1:c.662-1500A>T
  • NM_001408434.1:c.662-1500A>T
  • NM_001408435.1:c.662-1500A>T
  • NM_001408436.1:c.665-1500A>T
  • NM_001408437.1:c.665-1500A>T
  • NM_001408438.1:c.665-1500A>T
  • NM_001408439.1:c.665-1500A>T
  • NM_001408440.1:c.665-1500A>T
  • NM_001408441.1:c.665-1500A>T
  • NM_001408442.1:c.665-1500A>T
  • NM_001408443.1:c.665-1500A>T
  • NM_001408444.1:c.665-1500A>T
  • NM_001408445.1:c.662-1500A>T
  • NM_001408446.1:c.662-1500A>T
  • NM_001408447.1:c.662-1500A>T
  • NM_001408448.1:c.662-1500A>T
  • NM_001408450.1:c.662-1500A>T
  • NM_001408451.1:c.653-1500A>T
  • NM_001408452.1:c.647-1500A>T
  • NM_001408453.1:c.647-1500A>T
  • NM_001408454.1:c.647-1500A>T
  • NM_001408455.1:c.647-1500A>T
  • NM_001408456.1:c.647-1500A>T
  • NM_001408457.1:c.647-1500A>T
  • NM_001408458.1:c.647-1500A>T
  • NM_001408459.1:c.647-1500A>T
  • NM_001408460.1:c.647-1500A>T
  • NM_001408461.1:c.647-1500A>T
  • NM_001408462.1:c.644-1500A>T
  • NM_001408463.1:c.644-1500A>T
  • NM_001408464.1:c.644-1500A>T
  • NM_001408465.1:c.644-1500A>T
  • NM_001408466.1:c.647-1500A>T
  • NM_001408467.1:c.647-1500A>T
  • NM_001408468.1:c.644-1500A>T
  • NM_001408469.1:c.647-1500A>T
  • NM_001408470.1:c.644-1500A>T
  • NM_001408472.1:c.788-1500A>T
  • NM_001408473.1:c.785-1500A>T
  • NM_001408474.1:c.587-1500A>T
  • NM_001408475.1:c.584-1500A>T
  • NM_001408476.1:c.587-1500A>T
  • NM_001408478.1:c.578-1500A>T
  • NM_001408479.1:c.578-1500A>T
  • NM_001408480.1:c.578-1500A>T
  • NM_001408481.1:c.578-1500A>T
  • NM_001408482.1:c.578-1500A>T
  • NM_001408483.1:c.578-1500A>T
  • NM_001408484.1:c.578-1500A>T
  • NM_001408485.1:c.578-1500A>T
  • NM_001408489.1:c.578-1500A>T
  • NM_001408490.1:c.575-1500A>T
  • NM_001408491.1:c.575-1500A>T
  • NM_001408492.1:c.578-1500A>T
  • NM_001408493.1:c.575-1500A>T
  • NM_001408494.1:c.548-1500A>T
  • NM_001408495.1:c.545-1500A>T
  • NM_001408496.1:c.524-1500A>T
  • NM_001408497.1:c.524-1500A>T
  • NM_001408498.1:c.524-1500A>T
  • NM_001408499.1:c.524-1500A>T
  • NM_001408500.1:c.524-1500A>T
  • NM_001408501.1:c.524-1500A>T
  • NM_001408502.1:c.455-1500A>T
  • NM_001408503.1:c.521-1500A>T
  • NM_001408504.1:c.521-1500A>T
  • NM_001408505.1:c.521-1500A>T
  • NM_001408506.1:c.461-1500A>T
  • NM_001408507.1:c.461-1500A>T
  • NM_001408508.1:c.452-1500A>T
  • NM_001408509.1:c.452-1500A>T
  • NM_001408510.1:c.407-1500A>T
  • NM_001408511.1:c.404-1500A>T
  • NM_001408512.1:c.284-1500A>T
  • NM_001408513.1:c.578-1500A>T
  • NM_001408514.1:c.578-1500A>T
  • NM_007294.4:c.2999A>TMANE SELECT
  • NM_007297.4:c.2858A>T
  • NM_007298.4:c.788-1500A>T
  • NM_007299.4:c.788-1500A>T
  • NM_007300.4:c.2999A>T
  • NP_001394500.1:p.Glu929Val
  • NP_001394510.1:p.Glu1000Val
  • NP_001394511.1:p.Glu1000Val
  • NP_001394512.1:p.Glu1000Val
  • NP_001394514.1:p.Glu1000Val
  • NP_001394516.1:p.Glu999Val
  • NP_001394519.1:p.Glu999Val
  • NP_001394520.1:p.Glu999Val
  • NP_001394522.1:p.Glu1000Val
  • NP_001394523.1:p.Glu1000Val
  • NP_001394525.1:p.Glu1000Val
  • NP_001394526.1:p.Glu1000Val
  • NP_001394527.1:p.Glu1000Val
  • NP_001394531.1:p.Glu1000Val
  • NP_001394532.1:p.Glu1000Val
  • NP_001394534.1:p.Glu1000Val
  • NP_001394539.1:p.Glu999Val
  • NP_001394540.1:p.Glu999Val
  • NP_001394541.1:p.Glu999Val
  • NP_001394542.1:p.Glu999Val
  • NP_001394543.1:p.Glu999Val
  • NP_001394544.1:p.Glu999Val
  • NP_001394545.1:p.Glu1000Val
  • NP_001394546.1:p.Glu1000Val
  • NP_001394547.1:p.Glu1000Val
  • NP_001394548.1:p.Glu1000Val
  • NP_001394549.1:p.Glu1000Val
  • NP_001394550.1:p.Glu1000Val
  • NP_001394551.1:p.Glu1000Val
  • NP_001394552.1:p.Glu1000Val
  • NP_001394553.1:p.Glu1000Val
  • NP_001394554.1:p.Glu1000Val
  • NP_001394555.1:p.Glu1000Val
  • NP_001394556.1:p.Glu999Val
  • NP_001394557.1:p.Glu999Val
  • NP_001394558.1:p.Glu999Val
  • NP_001394559.1:p.Glu999Val
  • NP_001394560.1:p.Glu999Val
  • NP_001394561.1:p.Glu999Val
  • NP_001394562.1:p.Glu999Val
  • NP_001394563.1:p.Glu999Val
  • NP_001394564.1:p.Glu999Val
  • NP_001394565.1:p.Glu999Val
  • NP_001394566.1:p.Glu999Val
  • NP_001394567.1:p.Glu999Val
  • NP_001394568.1:p.Glu1000Val
  • NP_001394569.1:p.Glu1000Val
  • NP_001394570.1:p.Glu1000Val
  • NP_001394571.1:p.Glu1000Val
  • NP_001394573.1:p.Glu999Val
  • NP_001394574.1:p.Glu999Val
  • NP_001394575.1:p.Glu997Val
  • NP_001394576.1:p.Glu997Val
  • NP_001394577.1:p.Glu959Val
  • NP_001394578.1:p.Glu958Val
  • NP_001394581.1:p.Glu1000Val
  • NP_001394582.1:p.Glu974Val
  • NP_001394583.1:p.Glu974Val
  • NP_001394584.1:p.Glu974Val
  • NP_001394585.1:p.Glu974Val
  • NP_001394586.1:p.Glu974Val
  • NP_001394587.1:p.Glu974Val
  • NP_001394588.1:p.Glu973Val
  • NP_001394589.1:p.Glu973Val
  • NP_001394590.1:p.Glu973Val
  • NP_001394591.1:p.Glu973Val
  • NP_001394592.1:p.Glu974Val
  • NP_001394593.1:p.Glu959Val
  • NP_001394594.1:p.Glu959Val
  • NP_001394595.1:p.Glu959Val
  • NP_001394596.1:p.Glu959Val
  • NP_001394597.1:p.Glu959Val
  • NP_001394598.1:p.Glu959Val
  • NP_001394599.1:p.Glu958Val
  • NP_001394600.1:p.Glu958Val
  • NP_001394601.1:p.Glu958Val
  • NP_001394602.1:p.Glu958Val
  • NP_001394603.1:p.Glu959Val
  • NP_001394604.1:p.Glu959Val
  • NP_001394605.1:p.Glu959Val
  • NP_001394606.1:p.Glu959Val
  • NP_001394607.1:p.Glu959Val
  • NP_001394608.1:p.Glu959Val
  • NP_001394609.1:p.Glu959Val
  • NP_001394610.1:p.Glu959Val
  • NP_001394611.1:p.Glu959Val
  • NP_001394612.1:p.Glu959Val
  • NP_001394613.1:p.Glu1000Val
  • NP_001394614.1:p.Glu958Val
  • NP_001394615.1:p.Glu958Val
  • NP_001394616.1:p.Glu958Val
  • NP_001394617.1:p.Glu958Val
  • NP_001394618.1:p.Glu958Val
  • NP_001394619.1:p.Glu958Val
  • NP_001394620.1:p.Glu958Val
  • NP_001394621.1:p.Glu953Val
  • NP_001394623.1:p.Glu953Val
  • NP_001394624.1:p.Glu953Val
  • NP_001394625.1:p.Glu953Val
  • NP_001394626.1:p.Glu953Val
  • NP_001394627.1:p.Glu953Val
  • NP_001394653.1:p.Glu953Val
  • NP_001394654.1:p.Glu953Val
  • NP_001394655.1:p.Glu953Val
  • NP_001394656.1:p.Glu953Val
  • NP_001394657.1:p.Glu953Val
  • NP_001394658.1:p.Glu953Val
  • NP_001394659.1:p.Glu953Val
  • NP_001394660.1:p.Glu953Val
  • NP_001394661.1:p.Glu953Val
  • NP_001394662.1:p.Glu953Val
  • NP_001394663.1:p.Glu953Val
  • NP_001394664.1:p.Glu953Val
  • NP_001394665.1:p.Glu953Val
  • NP_001394666.1:p.Glu953Val
  • NP_001394667.1:p.Glu953Val
  • NP_001394668.1:p.Glu953Val
  • NP_001394669.1:p.Glu952Val
  • NP_001394670.1:p.Glu952Val
  • NP_001394671.1:p.Glu952Val
  • NP_001394672.1:p.Glu952Val
  • NP_001394673.1:p.Glu952Val
  • NP_001394674.1:p.Glu952Val
  • NP_001394675.1:p.Glu952Val
  • NP_001394676.1:p.Glu952Val
  • NP_001394677.1:p.Glu952Val
  • NP_001394678.1:p.Glu952Val
  • NP_001394679.1:p.Glu953Val
  • NP_001394680.1:p.Glu953Val
  • NP_001394681.1:p.Glu953Val
  • NP_001394767.1:p.Glu952Val
  • NP_001394768.1:p.Glu952Val
  • NP_001394770.1:p.Glu952Val
  • NP_001394771.1:p.Glu952Val
  • NP_001394772.1:p.Glu952Val
  • NP_001394773.1:p.Glu952Val
  • NP_001394774.1:p.Glu952Val
  • NP_001394775.1:p.Glu952Val
  • NP_001394776.1:p.Glu952Val
  • NP_001394777.1:p.Glu952Val
  • NP_001394778.1:p.Glu952Val
  • NP_001394779.1:p.Glu953Val
  • NP_001394780.1:p.Glu953Val
  • NP_001394781.1:p.Glu953Val
  • NP_001394782.1:p.Glu929Val
  • NP_001394783.1:p.Glu1000Val
  • NP_001394787.1:p.Glu1000Val
  • NP_001394788.1:p.Glu1000Val
  • NP_001394789.1:p.Glu999Val
  • NP_001394790.1:p.Glu999Val
  • NP_001394791.1:p.Glu933Val
  • NP_001394792.1:p.Glu959Val
  • NP_001394803.1:p.Glu932Val
  • NP_001394804.1:p.Glu932Val
  • NP_001394808.1:p.Glu930Val
  • NP_001394810.1:p.Glu930Val
  • NP_001394811.1:p.Glu930Val
  • NP_001394813.1:p.Glu930Val
  • NP_001394814.1:p.Glu930Val
  • NP_001394815.1:p.Glu930Val
  • NP_001394816.1:p.Glu930Val
  • NP_001394818.1:p.Glu930Val
  • NP_001394823.1:p.Glu929Val
  • NP_001394824.1:p.Glu929Val
  • NP_001394825.1:p.Glu929Val
  • NP_001394826.1:p.Glu929Val
  • NP_001394827.1:p.Glu929Val
  • NP_001394828.1:p.Glu929Val
  • NP_001394829.1:p.Glu930Val
  • NP_001394831.1:p.Glu930Val
  • NP_001394833.1:p.Glu930Val
  • NP_001394835.1:p.Glu930Val
  • NP_001394836.1:p.Glu930Val
  • NP_001394837.1:p.Glu930Val
  • NP_001394838.1:p.Glu930Val
  • NP_001394839.1:p.Glu930Val
  • NP_001394844.1:p.Glu929Val
  • NP_001394845.1:p.Glu929Val
  • NP_001394846.1:p.Glu929Val
  • NP_001394847.1:p.Glu929Val
  • NP_001394848.1:p.Glu959Val
  • NP_001394849.1:p.Glu912Val
  • NP_001394850.1:p.Glu912Val
  • NP_001394851.1:p.Glu912Val
  • NP_001394852.1:p.Glu912Val
  • NP_001394853.1:p.Glu912Val
  • NP_001394854.1:p.Glu912Val
  • NP_001394855.1:p.Glu912Val
  • NP_001394856.1:p.Glu912Val
  • NP_001394857.1:p.Glu912Val
  • NP_001394858.1:p.Glu912Val
  • NP_001394859.1:p.Glu911Val
  • NP_001394860.1:p.Glu911Val
  • NP_001394861.1:p.Glu911Val
  • NP_001394862.1:p.Glu912Val
  • NP_001394863.1:p.Glu911Val
  • NP_001394864.1:p.Glu912Val
  • NP_001394865.1:p.Glu911Val
  • NP_001394866.1:p.Glu959Val
  • NP_001394867.1:p.Glu959Val
  • NP_001394868.1:p.Glu959Val
  • NP_001394869.1:p.Glu958Val
  • NP_001394870.1:p.Glu958Val
  • NP_001394871.1:p.Glu953Val
  • NP_001394872.1:p.Glu952Val
  • NP_001394873.1:p.Glu953Val
  • NP_001394874.1:p.Glu953Val
  • NP_001394875.1:p.Glu889Val
  • NP_001394876.1:p.Glu889Val
  • NP_001394877.1:p.Glu889Val
  • NP_001394878.1:p.Glu889Val
  • NP_001394879.1:p.Glu889Val
  • NP_001394880.1:p.Glu889Val
  • NP_001394881.1:p.Glu889Val
  • NP_001394882.1:p.Glu889Val
  • NP_001394883.1:p.Glu888Val
  • NP_001394884.1:p.Glu888Val
  • NP_001394885.1:p.Glu888Val
  • NP_001394886.1:p.Glu889Val
  • NP_001394887.1:p.Glu888Val
  • NP_001394888.1:p.Glu873Val
  • NP_001394889.1:p.Glu873Val
  • NP_001394891.1:p.Glu872Val
  • NP_001394892.1:p.Glu873Val
  • NP_001394893.1:p.Glu952Val
  • NP_001394894.1:p.Glu832Val
  • NP_001394895.1:p.Glu704Val
  • NP_001394896.1:p.Glu704Val
  • NP_009225.1:p.Glu1000Val
  • NP_009225.1:p.Glu1000Val
  • NP_009228.2:p.Glu953Val
  • NP_009231.2:p.Glu1000Val
  • LRG_292t1:c.2999A>T
  • LRG_292:g.125452A>T
  • LRG_292p1:p.Glu1000Val
  • NC_000017.10:g.41244549T>A
  • NM_007294.3:c.2999A>T
  • NR_027676.2:n.3176A>T
Protein change:
E1000V
Molecular consequence:
  • NM_001407968.1:c.788-393A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407969.1:c.788-393A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407970.1:c.788-1500A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407971.1:c.788-1500A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407972.1:c.785-1500A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407973.1:c.788-1500A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407974.1:c.788-1500A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407975.1:c.788-1500A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407976.1:c.788-1500A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407977.1:c.788-1500A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407978.1:c.788-1500A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407979.1:c.788-1500A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407980.1:c.788-1500A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407981.1:c.788-1500A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407982.1:c.788-1500A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407983.1:c.788-1500A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407984.1:c.785-1500A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407985.1:c.785-1500A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407986.1:c.785-1500A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407990.1:c.788-1500A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407991.1:c.785-1500A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407992.1:c.785-1500A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407993.1:c.788-1500A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408392.1:c.785-1500A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408396.1:c.785-1500A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408397.1:c.785-1500A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408398.1:c.785-1500A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408399.1:c.785-1500A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408400.1:c.785-1500A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408401.1:c.785-1500A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408402.1:c.785-1500A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408403.1:c.788-1500A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408404.1:c.788-1500A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408406.1:c.791-1509A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408407.1:c.785-1500A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408408.1:c.779-1500A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408409.1:c.710-1500A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408410.1:c.647-1500A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408411.1:c.710-1500A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408412.1:c.710-1500A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408413.1:c.707-1500A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408414.1:c.710-1500A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408415.1:c.710-1500A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408416.1:c.707-1500A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408418.1:c.671-1500A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408419.1:c.671-1500A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408420.1:c.671-1500A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408421.1:c.668-1500A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408422.1:c.671-1500A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408423.1:c.671-1500A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408424.1:c.668-1500A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408425.1:c.665-1500A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408426.1:c.665-1500A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408427.1:c.665-1500A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408428.1:c.665-1500A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408429.1:c.665-1500A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408430.1:c.665-1500A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408431.1:c.668-1500A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408432.1:c.662-1500A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408433.1:c.662-1500A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408434.1:c.662-1500A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408435.1:c.662-1500A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408436.1:c.665-1500A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408437.1:c.665-1500A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408438.1:c.665-1500A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408439.1:c.665-1500A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408440.1:c.665-1500A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408441.1:c.665-1500A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408442.1:c.665-1500A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408443.1:c.665-1500A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408444.1:c.665-1500A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408445.1:c.662-1500A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408446.1:c.662-1500A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408447.1:c.662-1500A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408448.1:c.662-1500A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408450.1:c.662-1500A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408451.1:c.653-1500A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408452.1:c.647-1500A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408453.1:c.647-1500A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408454.1:c.647-1500A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408455.1:c.647-1500A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408456.1:c.647-1500A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408457.1:c.647-1500A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408458.1:c.647-1500A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408459.1:c.647-1500A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408460.1:c.647-1500A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408461.1:c.647-1500A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408462.1:c.644-1500A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408463.1:c.644-1500A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408464.1:c.644-1500A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408465.1:c.644-1500A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408466.1:c.647-1500A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408467.1:c.647-1500A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408468.1:c.644-1500A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408469.1:c.647-1500A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408470.1:c.644-1500A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408472.1:c.788-1500A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408473.1:c.785-1500A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408474.1:c.587-1500A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408475.1:c.584-1500A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408476.1:c.587-1500A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408478.1:c.578-1500A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408479.1:c.578-1500A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408480.1:c.578-1500A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408481.1:c.578-1500A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408482.1:c.578-1500A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408483.1:c.578-1500A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408484.1:c.578-1500A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408485.1:c.578-1500A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408489.1:c.578-1500A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408490.1:c.575-1500A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408491.1:c.575-1500A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408492.1:c.578-1500A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408493.1:c.575-1500A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408494.1:c.548-1500A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408495.1:c.545-1500A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408496.1:c.524-1500A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408497.1:c.524-1500A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408498.1:c.524-1500A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408499.1:c.524-1500A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408500.1:c.524-1500A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408501.1:c.524-1500A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408502.1:c.455-1500A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408503.1:c.521-1500A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408504.1:c.521-1500A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408505.1:c.521-1500A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408506.1:c.461-1500A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408507.1:c.461-1500A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408508.1:c.452-1500A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408509.1:c.452-1500A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408510.1:c.407-1500A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408511.1:c.404-1500A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408512.1:c.284-1500A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408513.1:c.578-1500A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408514.1:c.578-1500A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007298.4:c.788-1500A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007299.4:c.788-1500A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407571.1:c.2786A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407581.1:c.2999A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407582.1:c.2999A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407583.1:c.2999A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407585.1:c.2999A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407587.1:c.2996A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407590.1:c.2996A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407591.1:c.2996A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407593.1:c.2999A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407594.1:c.2999A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407596.1:c.2999A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407597.1:c.2999A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407598.1:c.2999A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407602.1:c.2999A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407603.1:c.2999A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407605.1:c.2999A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407610.1:c.2996A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407611.1:c.2996A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407612.1:c.2996A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407613.1:c.2996A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407614.1:c.2996A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407615.1:c.2996A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407616.1:c.2999A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407617.1:c.2999A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407618.1:c.2999A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407619.1:c.2999A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407620.1:c.2999A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407621.1:c.2999A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407622.1:c.2999A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407623.1:c.2999A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407624.1:c.2999A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407625.1:c.2999A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407626.1:c.2999A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407627.1:c.2996A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407628.1:c.2996A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407629.1:c.2996A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407630.1:c.2996A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407631.1:c.2996A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407632.1:c.2996A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407633.1:c.2996A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407634.1:c.2996A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407635.1:c.2996A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407636.1:c.2996A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407637.1:c.2996A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407638.1:c.2996A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407639.1:c.2999A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407640.1:c.2999A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407641.1:c.2999A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407642.1:c.2999A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407644.1:c.2996A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407645.1:c.2996A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407646.1:c.2990A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407647.1:c.2990A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407648.1:c.2876A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407649.1:c.2873A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407652.1:c.2999A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407653.1:c.2921A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407654.1:c.2921A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407655.1:c.2921A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407656.1:c.2921A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407657.1:c.2921A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407658.1:c.2921A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407659.1:c.2918A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407660.1:c.2918A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407661.1:c.2918A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407662.1:c.2918A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407663.1:c.2921A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407664.1:c.2876A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407665.1:c.2876A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407666.1:c.2876A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407667.1:c.2876A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407668.1:c.2876A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407669.1:c.2876A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407670.1:c.2873A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407671.1:c.2873A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407672.1:c.2873A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407673.1:c.2873A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407674.1:c.2876A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407675.1:c.2876A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407676.1:c.2876A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407677.1:c.2876A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407678.1:c.2876A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407679.1:c.2876A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407680.1:c.2876A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407681.1:c.2876A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407682.1:c.2876A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407683.1:c.2876A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407684.1:c.2999A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407685.1:c.2873A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407686.1:c.2873A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407687.1:c.2873A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407688.1:c.2873A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407689.1:c.2873A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407690.1:c.2873A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407691.1:c.2873A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407692.1:c.2858A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407694.1:c.2858A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407695.1:c.2858A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407696.1:c.2858A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407697.1:c.2858A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407698.1:c.2858A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407724.1:c.2858A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407725.1:c.2858A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407726.1:c.2858A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407727.1:c.2858A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407728.1:c.2858A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407729.1:c.2858A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407730.1:c.2858A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407731.1:c.2858A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407732.1:c.2858A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407733.1:c.2858A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407734.1:c.2858A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407735.1:c.2858A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407736.1:c.2858A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407737.1:c.2858A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407738.1:c.2858A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407739.1:c.2858A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407740.1:c.2855A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407741.1:c.2855A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407742.1:c.2855A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407743.1:c.2855A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407744.1:c.2855A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407745.1:c.2855A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407746.1:c.2855A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407747.1:c.2855A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407748.1:c.2855A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407749.1:c.2855A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407750.1:c.2858A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407751.1:c.2858A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407752.1:c.2858A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407838.1:c.2855A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407839.1:c.2855A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407841.1:c.2855A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407842.1:c.2855A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407843.1:c.2855A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407844.1:c.2855A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407845.1:c.2855A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407846.1:c.2855A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407847.1:c.2855A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407848.1:c.2855A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407849.1:c.2855A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407850.1:c.2858A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407851.1:c.2858A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407852.1:c.2858A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407853.1:c.2786A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407854.1:c.2999A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407858.1:c.2999A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407859.1:c.2999A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407860.1:c.2996A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407861.1:c.2996A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407862.1:c.2798A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407863.1:c.2876A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407874.1:c.2795A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407875.1:c.2795A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407879.1:c.2789A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407881.1:c.2789A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407882.1:c.2789A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407884.1:c.2789A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407885.1:c.2789A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407886.1:c.2789A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407887.1:c.2789A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407889.1:c.2789A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407894.1:c.2786A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407895.1:c.2786A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407896.1:c.2786A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407897.1:c.2786A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407898.1:c.2786A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407899.1:c.2786A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407900.1:c.2789A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407902.1:c.2789A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407904.1:c.2789A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407906.1:c.2789A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407907.1:c.2789A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407908.1:c.2789A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407909.1:c.2789A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407910.1:c.2789A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407915.1:c.2786A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407916.1:c.2786A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407917.1:c.2786A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407918.1:c.2786A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407919.1:c.2876A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407920.1:c.2735A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407921.1:c.2735A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407922.1:c.2735A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407923.1:c.2735A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407924.1:c.2735A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407925.1:c.2735A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407926.1:c.2735A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407927.1:c.2735A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407928.1:c.2735A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407929.1:c.2735A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407930.1:c.2732A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407931.1:c.2732A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407932.1:c.2732A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407933.1:c.2735A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407934.1:c.2732A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407935.1:c.2735A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407936.1:c.2732A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407937.1:c.2876A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407938.1:c.2876A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407939.1:c.2876A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407940.1:c.2873A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407941.1:c.2873A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407942.1:c.2858A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407943.1:c.2855A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407944.1:c.2858A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407945.1:c.2858A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407946.1:c.2666A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407947.1:c.2666A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407948.1:c.2666A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407949.1:c.2666A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407950.1:c.2666A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407951.1:c.2666A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407952.1:c.2666A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407953.1:c.2666A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407954.1:c.2663A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407955.1:c.2663A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407956.1:c.2663A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407957.1:c.2666A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407958.1:c.2663A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407959.1:c.2618A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407960.1:c.2618A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407962.1:c.2615A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407963.1:c.2618A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407964.1:c.2855A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407965.1:c.2495A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407966.1:c.2111A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407967.1:c.2111A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007294.4:c.2999A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007297.4:c.2858A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007300.4:c.2999A>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

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

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV005025834Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Feb 28, 2024) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV005025834.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The p.E1000V variant (also known as c.2999A>T), located in coding exon 9 of the BRCA1 gene, results from an A to T substitution at nucleotide position 2999. The glutamic acid at codon 1000 is replaced by valine, an amino acid with dissimilar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Based on the available evidence, the clinical significance of this alteration remains unclear.

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

Last Updated: May 7, 2024