U.S. flag

An official website of the United States government

NM_007294.4(BRCA1):c.3596C>T (p.Ala1199Val) AND Hereditary cancer-predisposing syndrome

Germline classification:
Likely benign (3 submissions)
Last evaluated:
Mar 23, 2023
Review status:
2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000131543.16

Allele description [Variation Report for NM_007294.4(BRCA1):c.3596C>T (p.Ala1199Val)]

NM_007294.4(BRCA1):c.3596C>T (p.Ala1199Val)

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.3596C>T (p.Ala1199Val)
HGVS:
  • NC_000017.11:g.43091935G>A
  • NG_005905.2:g.126049C>T
  • NG_087068.1:g.917G>A
  • NM_001407571.1:c.3383C>T
  • NM_001407581.1:c.3596C>T
  • NM_001407582.1:c.3596C>T
  • NM_001407583.1:c.3596C>T
  • NM_001407585.1:c.3596C>T
  • NM_001407587.1:c.3593C>T
  • NM_001407590.1:c.3593C>T
  • NM_001407591.1:c.3593C>T
  • NM_001407593.1:c.3596C>T
  • NM_001407594.1:c.3596C>T
  • NM_001407596.1:c.3596C>T
  • NM_001407597.1:c.3596C>T
  • NM_001407598.1:c.3596C>T
  • NM_001407602.1:c.3596C>T
  • NM_001407603.1:c.3596C>T
  • NM_001407605.1:c.3596C>T
  • NM_001407610.1:c.3593C>T
  • NM_001407611.1:c.3593C>T
  • NM_001407612.1:c.3593C>T
  • NM_001407613.1:c.3593C>T
  • NM_001407614.1:c.3593C>T
  • NM_001407615.1:c.3593C>T
  • NM_001407616.1:c.3596C>T
  • NM_001407617.1:c.3596C>T
  • NM_001407618.1:c.3596C>T
  • NM_001407619.1:c.3596C>T
  • NM_001407620.1:c.3596C>T
  • NM_001407621.1:c.3596C>T
  • NM_001407622.1:c.3596C>T
  • NM_001407623.1:c.3596C>T
  • NM_001407624.1:c.3596C>T
  • NM_001407625.1:c.3596C>T
  • NM_001407626.1:c.3596C>T
  • NM_001407627.1:c.3593C>T
  • NM_001407628.1:c.3593C>T
  • NM_001407629.1:c.3593C>T
  • NM_001407630.1:c.3593C>T
  • NM_001407631.1:c.3593C>T
  • NM_001407632.1:c.3593C>T
  • NM_001407633.1:c.3593C>T
  • NM_001407634.1:c.3593C>T
  • NM_001407635.1:c.3593C>T
  • NM_001407636.1:c.3593C>T
  • NM_001407637.1:c.3593C>T
  • NM_001407638.1:c.3593C>T
  • NM_001407639.1:c.3596C>T
  • NM_001407640.1:c.3596C>T
  • NM_001407641.1:c.3596C>T
  • NM_001407642.1:c.3596C>T
  • NM_001407644.1:c.3593C>T
  • NM_001407645.1:c.3593C>T
  • NM_001407646.1:c.3587C>T
  • NM_001407647.1:c.3587C>T
  • NM_001407648.1:c.3473C>T
  • NM_001407649.1:c.3470C>T
  • NM_001407652.1:c.3596C>T
  • NM_001407653.1:c.3518C>T
  • NM_001407654.1:c.3518C>T
  • NM_001407655.1:c.3518C>T
  • NM_001407656.1:c.3518C>T
  • NM_001407657.1:c.3518C>T
  • NM_001407658.1:c.3518C>T
  • NM_001407659.1:c.3515C>T
  • NM_001407660.1:c.3515C>T
  • NM_001407661.1:c.3515C>T
  • NM_001407662.1:c.3515C>T
  • NM_001407663.1:c.3518C>T
  • NM_001407664.1:c.3473C>T
  • NM_001407665.1:c.3473C>T
  • NM_001407666.1:c.3473C>T
  • NM_001407667.1:c.3473C>T
  • NM_001407668.1:c.3473C>T
  • NM_001407669.1:c.3473C>T
  • NM_001407670.1:c.3470C>T
  • NM_001407671.1:c.3470C>T
  • NM_001407672.1:c.3470C>T
  • NM_001407673.1:c.3470C>T
  • NM_001407674.1:c.3473C>T
  • NM_001407675.1:c.3473C>T
  • NM_001407676.1:c.3473C>T
  • NM_001407677.1:c.3473C>T
  • NM_001407678.1:c.3473C>T
  • NM_001407679.1:c.3473C>T
  • NM_001407680.1:c.3473C>T
  • NM_001407681.1:c.3473C>T
  • NM_001407682.1:c.3473C>T
  • NM_001407683.1:c.3473C>T
  • NM_001407684.1:c.3596C>T
  • NM_001407685.1:c.3470C>T
  • NM_001407686.1:c.3470C>T
  • NM_001407687.1:c.3470C>T
  • NM_001407688.1:c.3470C>T
  • NM_001407689.1:c.3470C>T
  • NM_001407690.1:c.3470C>T
  • NM_001407691.1:c.3470C>T
  • NM_001407692.1:c.3455C>T
  • NM_001407694.1:c.3455C>T
  • NM_001407695.1:c.3455C>T
  • NM_001407696.1:c.3455C>T
  • NM_001407697.1:c.3455C>T
  • NM_001407698.1:c.3455C>T
  • NM_001407724.1:c.3455C>T
  • NM_001407725.1:c.3455C>T
  • NM_001407726.1:c.3455C>T
  • NM_001407727.1:c.3455C>T
  • NM_001407728.1:c.3455C>T
  • NM_001407729.1:c.3455C>T
  • NM_001407730.1:c.3455C>T
  • NM_001407731.1:c.3455C>T
  • NM_001407732.1:c.3455C>T
  • NM_001407733.1:c.3455C>T
  • NM_001407734.1:c.3455C>T
  • NM_001407735.1:c.3455C>T
  • NM_001407736.1:c.3455C>T
  • NM_001407737.1:c.3455C>T
  • NM_001407738.1:c.3455C>T
  • NM_001407739.1:c.3455C>T
  • NM_001407740.1:c.3452C>T
  • NM_001407741.1:c.3452C>T
  • NM_001407742.1:c.3452C>T
  • NM_001407743.1:c.3452C>T
  • NM_001407744.1:c.3452C>T
  • NM_001407745.1:c.3452C>T
  • NM_001407746.1:c.3452C>T
  • NM_001407747.1:c.3452C>T
  • NM_001407748.1:c.3452C>T
  • NM_001407749.1:c.3452C>T
  • NM_001407750.1:c.3455C>T
  • NM_001407751.1:c.3455C>T
  • NM_001407752.1:c.3455C>T
  • NM_001407838.1:c.3452C>T
  • NM_001407839.1:c.3452C>T
  • NM_001407841.1:c.3452C>T
  • NM_001407842.1:c.3452C>T
  • NM_001407843.1:c.3452C>T
  • NM_001407844.1:c.3452C>T
  • NM_001407845.1:c.3452C>T
  • NM_001407846.1:c.3452C>T
  • NM_001407847.1:c.3452C>T
  • NM_001407848.1:c.3452C>T
  • NM_001407849.1:c.3452C>T
  • NM_001407850.1:c.3455C>T
  • NM_001407851.1:c.3455C>T
  • NM_001407852.1:c.3455C>T
  • NM_001407853.1:c.3383C>T
  • NM_001407854.1:c.3596C>T
  • NM_001407858.1:c.3596C>T
  • NM_001407859.1:c.3596C>T
  • NM_001407860.1:c.3593C>T
  • NM_001407861.1:c.3593C>T
  • NM_001407862.1:c.3395C>T
  • NM_001407863.1:c.3473C>T
  • NM_001407874.1:c.3392C>T
  • NM_001407875.1:c.3392C>T
  • NM_001407879.1:c.3386C>T
  • NM_001407881.1:c.3386C>T
  • NM_001407882.1:c.3386C>T
  • NM_001407884.1:c.3386C>T
  • NM_001407885.1:c.3386C>T
  • NM_001407886.1:c.3386C>T
  • NM_001407887.1:c.3386C>T
  • NM_001407889.1:c.3386C>T
  • NM_001407894.1:c.3383C>T
  • NM_001407895.1:c.3383C>T
  • NM_001407896.1:c.3383C>T
  • NM_001407897.1:c.3383C>T
  • NM_001407898.1:c.3383C>T
  • NM_001407899.1:c.3383C>T
  • NM_001407900.1:c.3386C>T
  • NM_001407902.1:c.3386C>T
  • NM_001407904.1:c.3386C>T
  • NM_001407906.1:c.3386C>T
  • NM_001407907.1:c.3386C>T
  • NM_001407908.1:c.3386C>T
  • NM_001407909.1:c.3386C>T
  • NM_001407910.1:c.3386C>T
  • NM_001407915.1:c.3383C>T
  • NM_001407916.1:c.3383C>T
  • NM_001407917.1:c.3383C>T
  • NM_001407918.1:c.3383C>T
  • NM_001407919.1:c.3473C>T
  • NM_001407920.1:c.3332C>T
  • NM_001407921.1:c.3332C>T
  • NM_001407922.1:c.3332C>T
  • NM_001407923.1:c.3332C>T
  • NM_001407924.1:c.3332C>T
  • NM_001407925.1:c.3332C>T
  • NM_001407926.1:c.3332C>T
  • NM_001407927.1:c.3332C>T
  • NM_001407928.1:c.3332C>T
  • NM_001407929.1:c.3332C>T
  • NM_001407930.1:c.3329C>T
  • NM_001407931.1:c.3329C>T
  • NM_001407932.1:c.3329C>T
  • NM_001407933.1:c.3332C>T
  • NM_001407934.1:c.3329C>T
  • NM_001407935.1:c.3332C>T
  • NM_001407936.1:c.3329C>T
  • NM_001407937.1:c.3473C>T
  • NM_001407938.1:c.3473C>T
  • NM_001407939.1:c.3473C>T
  • NM_001407940.1:c.3470C>T
  • NM_001407941.1:c.3470C>T
  • NM_001407942.1:c.3455C>T
  • NM_001407943.1:c.3452C>T
  • NM_001407944.1:c.3455C>T
  • NM_001407945.1:c.3455C>T
  • NM_001407946.1:c.3263C>T
  • NM_001407947.1:c.3263C>T
  • NM_001407948.1:c.3263C>T
  • NM_001407949.1:c.3263C>T
  • NM_001407950.1:c.3263C>T
  • NM_001407951.1:c.3263C>T
  • NM_001407952.1:c.3263C>T
  • NM_001407953.1:c.3263C>T
  • NM_001407954.1:c.3260C>T
  • NM_001407955.1:c.3260C>T
  • NM_001407956.1:c.3260C>T
  • NM_001407957.1:c.3263C>T
  • NM_001407958.1:c.3260C>T
  • NM_001407959.1:c.3215C>T
  • NM_001407960.1:c.3215C>T
  • NM_001407962.1:c.3212C>T
  • NM_001407963.1:c.3215C>T
  • NM_001407964.1:c.3452C>T
  • NM_001407965.1:c.3092C>T
  • NM_001407966.1:c.2708C>T
  • NM_001407967.1:c.2708C>T
  • NM_001407968.1:c.992C>T
  • NM_001407969.1:c.992C>T
  • NM_001407970.1:c.788-903C>T
  • NM_001407971.1:c.788-903C>T
  • NM_001407972.1:c.785-903C>T
  • NM_001407973.1:c.788-903C>T
  • NM_001407974.1:c.788-903C>T
  • NM_001407975.1:c.788-903C>T
  • NM_001407976.1:c.788-903C>T
  • NM_001407977.1:c.788-903C>T
  • NM_001407978.1:c.788-903C>T
  • NM_001407979.1:c.788-903C>T
  • NM_001407980.1:c.788-903C>T
  • NM_001407981.1:c.788-903C>T
  • NM_001407982.1:c.788-903C>T
  • NM_001407983.1:c.788-903C>T
  • NM_001407984.1:c.785-903C>T
  • NM_001407985.1:c.785-903C>T
  • NM_001407986.1:c.785-903C>T
  • NM_001407990.1:c.788-903C>T
  • NM_001407991.1:c.785-903C>T
  • NM_001407992.1:c.785-903C>T
  • NM_001407993.1:c.788-903C>T
  • NM_001408392.1:c.785-903C>T
  • NM_001408396.1:c.785-903C>T
  • NM_001408397.1:c.785-903C>T
  • NM_001408398.1:c.785-903C>T
  • NM_001408399.1:c.785-903C>T
  • NM_001408400.1:c.785-903C>T
  • NM_001408401.1:c.785-903C>T
  • NM_001408402.1:c.785-903C>T
  • NM_001408403.1:c.788-903C>T
  • NM_001408404.1:c.788-903C>T
  • NM_001408406.1:c.791-912C>T
  • NM_001408407.1:c.785-903C>T
  • NM_001408408.1:c.779-903C>T
  • NM_001408409.1:c.710-903C>T
  • NM_001408410.1:c.647-903C>T
  • NM_001408411.1:c.710-903C>T
  • NM_001408412.1:c.710-903C>T
  • NM_001408413.1:c.707-903C>T
  • NM_001408414.1:c.710-903C>T
  • NM_001408415.1:c.710-903C>T
  • NM_001408416.1:c.707-903C>T
  • NM_001408418.1:c.671-903C>T
  • NM_001408419.1:c.671-903C>T
  • NM_001408420.1:c.671-903C>T
  • NM_001408421.1:c.668-903C>T
  • NM_001408422.1:c.671-903C>T
  • NM_001408423.1:c.671-903C>T
  • NM_001408424.1:c.668-903C>T
  • NM_001408425.1:c.665-903C>T
  • NM_001408426.1:c.665-903C>T
  • NM_001408427.1:c.665-903C>T
  • NM_001408428.1:c.665-903C>T
  • NM_001408429.1:c.665-903C>T
  • NM_001408430.1:c.665-903C>T
  • NM_001408431.1:c.668-903C>T
  • NM_001408432.1:c.662-903C>T
  • NM_001408433.1:c.662-903C>T
  • NM_001408434.1:c.662-903C>T
  • NM_001408435.1:c.662-903C>T
  • NM_001408436.1:c.665-903C>T
  • NM_001408437.1:c.665-903C>T
  • NM_001408438.1:c.665-903C>T
  • NM_001408439.1:c.665-903C>T
  • NM_001408440.1:c.665-903C>T
  • NM_001408441.1:c.665-903C>T
  • NM_001408442.1:c.665-903C>T
  • NM_001408443.1:c.665-903C>T
  • NM_001408444.1:c.665-903C>T
  • NM_001408445.1:c.662-903C>T
  • NM_001408446.1:c.662-903C>T
  • NM_001408447.1:c.662-903C>T
  • NM_001408448.1:c.662-903C>T
  • NM_001408450.1:c.662-903C>T
  • NM_001408451.1:c.653-903C>T
  • NM_001408452.1:c.647-903C>T
  • NM_001408453.1:c.647-903C>T
  • NM_001408454.1:c.647-903C>T
  • NM_001408455.1:c.647-903C>T
  • NM_001408456.1:c.647-903C>T
  • NM_001408457.1:c.647-903C>T
  • NM_001408458.1:c.647-903C>T
  • NM_001408459.1:c.647-903C>T
  • NM_001408460.1:c.647-903C>T
  • NM_001408461.1:c.647-903C>T
  • NM_001408462.1:c.644-903C>T
  • NM_001408463.1:c.644-903C>T
  • NM_001408464.1:c.644-903C>T
  • NM_001408465.1:c.644-903C>T
  • NM_001408466.1:c.647-903C>T
  • NM_001408467.1:c.647-903C>T
  • NM_001408468.1:c.644-903C>T
  • NM_001408469.1:c.647-903C>T
  • NM_001408470.1:c.644-903C>T
  • NM_001408472.1:c.788-903C>T
  • NM_001408473.1:c.785-903C>T
  • NM_001408474.1:c.587-903C>T
  • NM_001408475.1:c.584-903C>T
  • NM_001408476.1:c.587-903C>T
  • NM_001408478.1:c.578-903C>T
  • NM_001408479.1:c.578-903C>T
  • NM_001408480.1:c.578-903C>T
  • NM_001408481.1:c.578-903C>T
  • NM_001408482.1:c.578-903C>T
  • NM_001408483.1:c.578-903C>T
  • NM_001408484.1:c.578-903C>T
  • NM_001408485.1:c.578-903C>T
  • NM_001408489.1:c.578-903C>T
  • NM_001408490.1:c.575-903C>T
  • NM_001408491.1:c.575-903C>T
  • NM_001408492.1:c.578-903C>T
  • NM_001408493.1:c.575-903C>T
  • NM_001408494.1:c.548-903C>T
  • NM_001408495.1:c.545-903C>T
  • NM_001408496.1:c.524-903C>T
  • NM_001408497.1:c.524-903C>T
  • NM_001408498.1:c.524-903C>T
  • NM_001408499.1:c.524-903C>T
  • NM_001408500.1:c.524-903C>T
  • NM_001408501.1:c.524-903C>T
  • NM_001408502.1:c.455-903C>T
  • NM_001408503.1:c.521-903C>T
  • NM_001408504.1:c.521-903C>T
  • NM_001408505.1:c.521-903C>T
  • NM_001408506.1:c.461-903C>T
  • NM_001408507.1:c.461-903C>T
  • NM_001408508.1:c.452-903C>T
  • NM_001408509.1:c.452-903C>T
  • NM_001408510.1:c.407-903C>T
  • NM_001408511.1:c.404-903C>T
  • NM_001408512.1:c.284-903C>T
  • NM_001408513.1:c.578-903C>T
  • NM_001408514.1:c.578-903C>T
  • NM_007294.4:c.3596C>TMANE SELECT
  • NM_007297.4:c.3455C>T
  • NM_007298.4:c.788-903C>T
  • NM_007299.4:c.788-903C>T
  • NM_007300.4:c.3596C>T
  • NP_001394500.1:p.Ala1128Val
  • NP_001394510.1:p.Ala1199Val
  • NP_001394511.1:p.Ala1199Val
  • NP_001394512.1:p.Ala1199Val
  • NP_001394514.1:p.Ala1199Val
  • NP_001394516.1:p.Ala1198Val
  • NP_001394519.1:p.Ala1198Val
  • NP_001394520.1:p.Ala1198Val
  • NP_001394522.1:p.Ala1199Val
  • NP_001394523.1:p.Ala1199Val
  • NP_001394525.1:p.Ala1199Val
  • NP_001394526.1:p.Ala1199Val
  • NP_001394527.1:p.Ala1199Val
  • NP_001394531.1:p.Ala1199Val
  • NP_001394532.1:p.Ala1199Val
  • NP_001394534.1:p.Ala1199Val
  • NP_001394539.1:p.Ala1198Val
  • NP_001394540.1:p.Ala1198Val
  • NP_001394541.1:p.Ala1198Val
  • NP_001394542.1:p.Ala1198Val
  • NP_001394543.1:p.Ala1198Val
  • NP_001394544.1:p.Ala1198Val
  • NP_001394545.1:p.Ala1199Val
  • NP_001394546.1:p.Ala1199Val
  • NP_001394547.1:p.Ala1199Val
  • NP_001394548.1:p.Ala1199Val
  • NP_001394549.1:p.Ala1199Val
  • NP_001394550.1:p.Ala1199Val
  • NP_001394551.1:p.Ala1199Val
  • NP_001394552.1:p.Ala1199Val
  • NP_001394553.1:p.Ala1199Val
  • NP_001394554.1:p.Ala1199Val
  • NP_001394555.1:p.Ala1199Val
  • NP_001394556.1:p.Ala1198Val
  • NP_001394557.1:p.Ala1198Val
  • NP_001394558.1:p.Ala1198Val
  • NP_001394559.1:p.Ala1198Val
  • NP_001394560.1:p.Ala1198Val
  • NP_001394561.1:p.Ala1198Val
  • NP_001394562.1:p.Ala1198Val
  • NP_001394563.1:p.Ala1198Val
  • NP_001394564.1:p.Ala1198Val
  • NP_001394565.1:p.Ala1198Val
  • NP_001394566.1:p.Ala1198Val
  • NP_001394567.1:p.Ala1198Val
  • NP_001394568.1:p.Ala1199Val
  • NP_001394569.1:p.Ala1199Val
  • NP_001394570.1:p.Ala1199Val
  • NP_001394571.1:p.Ala1199Val
  • NP_001394573.1:p.Ala1198Val
  • NP_001394574.1:p.Ala1198Val
  • NP_001394575.1:p.Ala1196Val
  • NP_001394576.1:p.Ala1196Val
  • NP_001394577.1:p.Ala1158Val
  • NP_001394578.1:p.Ala1157Val
  • NP_001394581.1:p.Ala1199Val
  • NP_001394582.1:p.Ala1173Val
  • NP_001394583.1:p.Ala1173Val
  • NP_001394584.1:p.Ala1173Val
  • NP_001394585.1:p.Ala1173Val
  • NP_001394586.1:p.Ala1173Val
  • NP_001394587.1:p.Ala1173Val
  • NP_001394588.1:p.Ala1172Val
  • NP_001394589.1:p.Ala1172Val
  • NP_001394590.1:p.Ala1172Val
  • NP_001394591.1:p.Ala1172Val
  • NP_001394592.1:p.Ala1173Val
  • NP_001394593.1:p.Ala1158Val
  • NP_001394594.1:p.Ala1158Val
  • NP_001394595.1:p.Ala1158Val
  • NP_001394596.1:p.Ala1158Val
  • NP_001394597.1:p.Ala1158Val
  • NP_001394598.1:p.Ala1158Val
  • NP_001394599.1:p.Ala1157Val
  • NP_001394600.1:p.Ala1157Val
  • NP_001394601.1:p.Ala1157Val
  • NP_001394602.1:p.Ala1157Val
  • NP_001394603.1:p.Ala1158Val
  • NP_001394604.1:p.Ala1158Val
  • NP_001394605.1:p.Ala1158Val
  • NP_001394606.1:p.Ala1158Val
  • NP_001394607.1:p.Ala1158Val
  • NP_001394608.1:p.Ala1158Val
  • NP_001394609.1:p.Ala1158Val
  • NP_001394610.1:p.Ala1158Val
  • NP_001394611.1:p.Ala1158Val
  • NP_001394612.1:p.Ala1158Val
  • NP_001394613.1:p.Ala1199Val
  • NP_001394614.1:p.Ala1157Val
  • NP_001394615.1:p.Ala1157Val
  • NP_001394616.1:p.Ala1157Val
  • NP_001394617.1:p.Ala1157Val
  • NP_001394618.1:p.Ala1157Val
  • NP_001394619.1:p.Ala1157Val
  • NP_001394620.1:p.Ala1157Val
  • NP_001394621.1:p.Ala1152Val
  • NP_001394623.1:p.Ala1152Val
  • NP_001394624.1:p.Ala1152Val
  • NP_001394625.1:p.Ala1152Val
  • NP_001394626.1:p.Ala1152Val
  • NP_001394627.1:p.Ala1152Val
  • NP_001394653.1:p.Ala1152Val
  • NP_001394654.1:p.Ala1152Val
  • NP_001394655.1:p.Ala1152Val
  • NP_001394656.1:p.Ala1152Val
  • NP_001394657.1:p.Ala1152Val
  • NP_001394658.1:p.Ala1152Val
  • NP_001394659.1:p.Ala1152Val
  • NP_001394660.1:p.Ala1152Val
  • NP_001394661.1:p.Ala1152Val
  • NP_001394662.1:p.Ala1152Val
  • NP_001394663.1:p.Ala1152Val
  • NP_001394664.1:p.Ala1152Val
  • NP_001394665.1:p.Ala1152Val
  • NP_001394666.1:p.Ala1152Val
  • NP_001394667.1:p.Ala1152Val
  • NP_001394668.1:p.Ala1152Val
  • NP_001394669.1:p.Ala1151Val
  • NP_001394670.1:p.Ala1151Val
  • NP_001394671.1:p.Ala1151Val
  • NP_001394672.1:p.Ala1151Val
  • NP_001394673.1:p.Ala1151Val
  • NP_001394674.1:p.Ala1151Val
  • NP_001394675.1:p.Ala1151Val
  • NP_001394676.1:p.Ala1151Val
  • NP_001394677.1:p.Ala1151Val
  • NP_001394678.1:p.Ala1151Val
  • NP_001394679.1:p.Ala1152Val
  • NP_001394680.1:p.Ala1152Val
  • NP_001394681.1:p.Ala1152Val
  • NP_001394767.1:p.Ala1151Val
  • NP_001394768.1:p.Ala1151Val
  • NP_001394770.1:p.Ala1151Val
  • NP_001394771.1:p.Ala1151Val
  • NP_001394772.1:p.Ala1151Val
  • NP_001394773.1:p.Ala1151Val
  • NP_001394774.1:p.Ala1151Val
  • NP_001394775.1:p.Ala1151Val
  • NP_001394776.1:p.Ala1151Val
  • NP_001394777.1:p.Ala1151Val
  • NP_001394778.1:p.Ala1151Val
  • NP_001394779.1:p.Ala1152Val
  • NP_001394780.1:p.Ala1152Val
  • NP_001394781.1:p.Ala1152Val
  • NP_001394782.1:p.Ala1128Val
  • NP_001394783.1:p.Ala1199Val
  • NP_001394787.1:p.Ala1199Val
  • NP_001394788.1:p.Ala1199Val
  • NP_001394789.1:p.Ala1198Val
  • NP_001394790.1:p.Ala1198Val
  • NP_001394791.1:p.Ala1132Val
  • NP_001394792.1:p.Ala1158Val
  • NP_001394803.1:p.Ala1131Val
  • NP_001394804.1:p.Ala1131Val
  • NP_001394808.1:p.Ala1129Val
  • NP_001394810.1:p.Ala1129Val
  • NP_001394811.1:p.Ala1129Val
  • NP_001394813.1:p.Ala1129Val
  • NP_001394814.1:p.Ala1129Val
  • NP_001394815.1:p.Ala1129Val
  • NP_001394816.1:p.Ala1129Val
  • NP_001394818.1:p.Ala1129Val
  • NP_001394823.1:p.Ala1128Val
  • NP_001394824.1:p.Ala1128Val
  • NP_001394825.1:p.Ala1128Val
  • NP_001394826.1:p.Ala1128Val
  • NP_001394827.1:p.Ala1128Val
  • NP_001394828.1:p.Ala1128Val
  • NP_001394829.1:p.Ala1129Val
  • NP_001394831.1:p.Ala1129Val
  • NP_001394833.1:p.Ala1129Val
  • NP_001394835.1:p.Ala1129Val
  • NP_001394836.1:p.Ala1129Val
  • NP_001394837.1:p.Ala1129Val
  • NP_001394838.1:p.Ala1129Val
  • NP_001394839.1:p.Ala1129Val
  • NP_001394844.1:p.Ala1128Val
  • NP_001394845.1:p.Ala1128Val
  • NP_001394846.1:p.Ala1128Val
  • NP_001394847.1:p.Ala1128Val
  • NP_001394848.1:p.Ala1158Val
  • NP_001394849.1:p.Ala1111Val
  • NP_001394850.1:p.Ala1111Val
  • NP_001394851.1:p.Ala1111Val
  • NP_001394852.1:p.Ala1111Val
  • NP_001394853.1:p.Ala1111Val
  • NP_001394854.1:p.Ala1111Val
  • NP_001394855.1:p.Ala1111Val
  • NP_001394856.1:p.Ala1111Val
  • NP_001394857.1:p.Ala1111Val
  • NP_001394858.1:p.Ala1111Val
  • NP_001394859.1:p.Ala1110Val
  • NP_001394860.1:p.Ala1110Val
  • NP_001394861.1:p.Ala1110Val
  • NP_001394862.1:p.Ala1111Val
  • NP_001394863.1:p.Ala1110Val
  • NP_001394864.1:p.Ala1111Val
  • NP_001394865.1:p.Ala1110Val
  • NP_001394866.1:p.Ala1158Val
  • NP_001394867.1:p.Ala1158Val
  • NP_001394868.1:p.Ala1158Val
  • NP_001394869.1:p.Ala1157Val
  • NP_001394870.1:p.Ala1157Val
  • NP_001394871.1:p.Ala1152Val
  • NP_001394872.1:p.Ala1151Val
  • NP_001394873.1:p.Ala1152Val
  • NP_001394874.1:p.Ala1152Val
  • NP_001394875.1:p.Ala1088Val
  • NP_001394876.1:p.Ala1088Val
  • NP_001394877.1:p.Ala1088Val
  • NP_001394878.1:p.Ala1088Val
  • NP_001394879.1:p.Ala1088Val
  • NP_001394880.1:p.Ala1088Val
  • NP_001394881.1:p.Ala1088Val
  • NP_001394882.1:p.Ala1088Val
  • NP_001394883.1:p.Ala1087Val
  • NP_001394884.1:p.Ala1087Val
  • NP_001394885.1:p.Ala1087Val
  • NP_001394886.1:p.Ala1088Val
  • NP_001394887.1:p.Ala1087Val
  • NP_001394888.1:p.Ala1072Val
  • NP_001394889.1:p.Ala1072Val
  • NP_001394891.1:p.Ala1071Val
  • NP_001394892.1:p.Ala1072Val
  • NP_001394893.1:p.Ala1151Val
  • NP_001394894.1:p.Ala1031Val
  • NP_001394895.1:p.Ala903Val
  • NP_001394896.1:p.Ala903Val
  • NP_001394897.1:p.Ala331Val
  • NP_001394898.1:p.Ala331Val
  • NP_009225.1:p.Ala1199Val
  • NP_009225.1:p.Ala1199Val
  • NP_009228.2:p.Ala1152Val
  • NP_009231.2:p.Ala1199Val
  • LRG_292t1:c.3596C>T
  • LRG_292:g.126049C>T
  • LRG_292p1:p.Ala1199Val
  • NC_000017.10:g.41243952G>A
  • NM_007294.2:c.3596C>T
  • NM_007294.3:c.3596C>T
  • NR_027676.1:n.3732C>T
  • p.A1199V
Protein change:
A1031V
Links:
dbSNP: rs587782458
NCBI 1000 Genomes Browser:
rs587782458
Molecular consequence:
  • NM_001407970.1:c.788-903C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407971.1:c.788-903C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407972.1:c.785-903C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407973.1:c.788-903C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407974.1:c.788-903C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407975.1:c.788-903C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407976.1:c.788-903C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407977.1:c.788-903C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407978.1:c.788-903C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407979.1:c.788-903C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407980.1:c.788-903C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407981.1:c.788-903C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407982.1:c.788-903C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407983.1:c.788-903C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407984.1:c.785-903C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407985.1:c.785-903C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407986.1:c.785-903C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407990.1:c.788-903C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407991.1:c.785-903C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407992.1:c.785-903C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407993.1:c.788-903C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408392.1:c.785-903C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408396.1:c.785-903C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408397.1:c.785-903C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408398.1:c.785-903C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408399.1:c.785-903C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408400.1:c.785-903C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408401.1:c.785-903C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408402.1:c.785-903C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408403.1:c.788-903C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408404.1:c.788-903C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408406.1:c.791-912C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408407.1:c.785-903C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408408.1:c.779-903C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408409.1:c.710-903C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408410.1:c.647-903C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408411.1:c.710-903C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408412.1:c.710-903C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408413.1:c.707-903C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408414.1:c.710-903C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408415.1:c.710-903C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408416.1:c.707-903C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408418.1:c.671-903C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408419.1:c.671-903C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408420.1:c.671-903C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408421.1:c.668-903C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408422.1:c.671-903C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408423.1:c.671-903C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408424.1:c.668-903C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408425.1:c.665-903C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408426.1:c.665-903C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408427.1:c.665-903C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408428.1:c.665-903C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408429.1:c.665-903C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408430.1:c.665-903C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408431.1:c.668-903C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408432.1:c.662-903C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408433.1:c.662-903C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408434.1:c.662-903C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408435.1:c.662-903C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408436.1:c.665-903C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408437.1:c.665-903C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408438.1:c.665-903C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408439.1:c.665-903C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408440.1:c.665-903C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408441.1:c.665-903C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408442.1:c.665-903C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408443.1:c.665-903C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408444.1:c.665-903C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408445.1:c.662-903C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408446.1:c.662-903C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408447.1:c.662-903C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408448.1:c.662-903C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408450.1:c.662-903C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408451.1:c.653-903C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408452.1:c.647-903C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408453.1:c.647-903C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408454.1:c.647-903C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408455.1:c.647-903C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408456.1:c.647-903C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408457.1:c.647-903C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408458.1:c.647-903C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408459.1:c.647-903C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408460.1:c.647-903C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408461.1:c.647-903C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408462.1:c.644-903C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408463.1:c.644-903C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408464.1:c.644-903C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408465.1:c.644-903C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408466.1:c.647-903C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408467.1:c.647-903C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408468.1:c.644-903C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408469.1:c.647-903C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408470.1:c.644-903C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408472.1:c.788-903C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408473.1:c.785-903C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408474.1:c.587-903C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408475.1:c.584-903C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408476.1:c.587-903C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408478.1:c.578-903C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408479.1:c.578-903C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408480.1:c.578-903C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408481.1:c.578-903C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408482.1:c.578-903C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408483.1:c.578-903C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408484.1:c.578-903C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408485.1:c.578-903C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408489.1:c.578-903C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408490.1:c.575-903C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408491.1:c.575-903C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408492.1:c.578-903C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408493.1:c.575-903C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408494.1:c.548-903C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408495.1:c.545-903C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408496.1:c.524-903C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408497.1:c.524-903C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408498.1:c.524-903C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408499.1:c.524-903C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408500.1:c.524-903C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408501.1:c.524-903C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408502.1:c.455-903C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408503.1:c.521-903C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408504.1:c.521-903C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408505.1:c.521-903C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408506.1:c.461-903C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408507.1:c.461-903C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408508.1:c.452-903C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408509.1:c.452-903C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408510.1:c.407-903C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408511.1:c.404-903C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408512.1:c.284-903C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408513.1:c.578-903C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408514.1:c.578-903C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007298.4:c.788-903C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007299.4:c.788-903C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407571.1:c.3383C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407581.1:c.3596C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407582.1:c.3596C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407583.1:c.3596C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407585.1:c.3596C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407587.1:c.3593C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407590.1:c.3593C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407591.1:c.3593C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407593.1:c.3596C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407594.1:c.3596C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407596.1:c.3596C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407597.1:c.3596C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407598.1:c.3596C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407602.1:c.3596C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407603.1:c.3596C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407605.1:c.3596C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407610.1:c.3593C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407611.1:c.3593C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407612.1:c.3593C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407613.1:c.3593C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407614.1:c.3593C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407615.1:c.3593C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407616.1:c.3596C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407617.1:c.3596C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407618.1:c.3596C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407619.1:c.3596C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407620.1:c.3596C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407621.1:c.3596C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407622.1:c.3596C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407623.1:c.3596C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407624.1:c.3596C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407625.1:c.3596C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407626.1:c.3596C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407627.1:c.3593C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407628.1:c.3593C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407629.1:c.3593C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407630.1:c.3593C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407631.1:c.3593C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407632.1:c.3593C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407633.1:c.3593C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407634.1:c.3593C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407635.1:c.3593C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407636.1:c.3593C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407637.1:c.3593C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407638.1:c.3593C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407639.1:c.3596C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407640.1:c.3596C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407641.1:c.3596C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407642.1:c.3596C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407644.1:c.3593C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407645.1:c.3593C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407646.1:c.3587C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407647.1:c.3587C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407648.1:c.3473C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407649.1:c.3470C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407652.1:c.3596C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407653.1:c.3518C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407654.1:c.3518C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407655.1:c.3518C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407656.1:c.3518C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407657.1:c.3518C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407658.1:c.3518C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407659.1:c.3515C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407660.1:c.3515C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407661.1:c.3515C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407662.1:c.3515C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407663.1:c.3518C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407664.1:c.3473C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407665.1:c.3473C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407666.1:c.3473C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407667.1:c.3473C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407668.1:c.3473C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407669.1:c.3473C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407670.1:c.3470C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407671.1:c.3470C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407672.1:c.3470C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407673.1:c.3470C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407674.1:c.3473C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407675.1:c.3473C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407676.1:c.3473C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407677.1:c.3473C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407678.1:c.3473C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407679.1:c.3473C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407680.1:c.3473C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407681.1:c.3473C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407682.1:c.3473C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407683.1:c.3473C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407684.1:c.3596C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407685.1:c.3470C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407686.1:c.3470C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407687.1:c.3470C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407688.1:c.3470C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407689.1:c.3470C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407690.1:c.3470C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407691.1:c.3470C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407692.1:c.3455C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407694.1:c.3455C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407695.1:c.3455C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407696.1:c.3455C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407697.1:c.3455C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407698.1:c.3455C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407724.1:c.3455C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407725.1:c.3455C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407726.1:c.3455C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407727.1:c.3455C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407728.1:c.3455C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407729.1:c.3455C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407730.1:c.3455C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407731.1:c.3455C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407732.1:c.3455C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407733.1:c.3455C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407734.1:c.3455C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407735.1:c.3455C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407736.1:c.3455C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407737.1:c.3455C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407738.1:c.3455C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407739.1:c.3455C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407740.1:c.3452C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407741.1:c.3452C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407742.1:c.3452C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407743.1:c.3452C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407744.1:c.3452C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407745.1:c.3452C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407746.1:c.3452C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407747.1:c.3452C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407748.1:c.3452C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407749.1:c.3452C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407750.1:c.3455C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407751.1:c.3455C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407752.1:c.3455C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407838.1:c.3452C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407839.1:c.3452C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407841.1:c.3452C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407842.1:c.3452C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407843.1:c.3452C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407844.1:c.3452C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407845.1:c.3452C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407846.1:c.3452C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407847.1:c.3452C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407848.1:c.3452C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407849.1:c.3452C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407850.1:c.3455C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407851.1:c.3455C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407852.1:c.3455C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407853.1:c.3383C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407854.1:c.3596C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407858.1:c.3596C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407859.1:c.3596C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407860.1:c.3593C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407861.1:c.3593C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407862.1:c.3395C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407863.1:c.3473C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407874.1:c.3392C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407875.1:c.3392C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407879.1:c.3386C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407881.1:c.3386C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407882.1:c.3386C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407884.1:c.3386C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407885.1:c.3386C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407886.1:c.3386C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407887.1:c.3386C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407889.1:c.3386C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407894.1:c.3383C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407895.1:c.3383C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407896.1:c.3383C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407897.1:c.3383C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407898.1:c.3383C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407899.1:c.3383C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407900.1:c.3386C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407902.1:c.3386C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407904.1:c.3386C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407906.1:c.3386C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407907.1:c.3386C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407908.1:c.3386C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407909.1:c.3386C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407910.1:c.3386C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407915.1:c.3383C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407916.1:c.3383C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407917.1:c.3383C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407918.1:c.3383C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407919.1:c.3473C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407920.1:c.3332C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407921.1:c.3332C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407922.1:c.3332C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407923.1:c.3332C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407924.1:c.3332C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407925.1:c.3332C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407926.1:c.3332C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407927.1:c.3332C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407928.1:c.3332C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407929.1:c.3332C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407930.1:c.3329C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407931.1:c.3329C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407932.1:c.3329C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407933.1:c.3332C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407934.1:c.3329C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407935.1:c.3332C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407936.1:c.3329C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407937.1:c.3473C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407938.1:c.3473C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407939.1:c.3473C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407940.1:c.3470C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407941.1:c.3470C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407942.1:c.3455C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407943.1:c.3452C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407944.1:c.3455C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407945.1:c.3455C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407946.1:c.3263C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407947.1:c.3263C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407948.1:c.3263C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407949.1:c.3263C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407950.1:c.3263C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407951.1:c.3263C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407952.1:c.3263C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407953.1:c.3263C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407954.1:c.3260C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407955.1:c.3260C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407956.1:c.3260C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407957.1:c.3263C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407958.1:c.3260C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407959.1:c.3215C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407960.1:c.3215C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407962.1:c.3212C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407963.1:c.3215C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407964.1:c.3452C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407965.1:c.3092C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407966.1:c.2708C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407967.1:c.2708C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407968.1:c.992C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407969.1:c.992C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007294.4:c.3596C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007297.4:c.3455C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007300.4:c.3596C>T - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

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

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000186542Ambry Genetics
criteria provided, single submitter

(Ambry General Variant Classification Scheme_2022)		Likely benign
(May 27, 2017) 		germlineclinical testing

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

Citation Link,

SCV000911050Color Diagnostics, LLC DBA Color Health
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely benign
(Jan 13, 2017) 		germlineclinical testing

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

SCV003848281University of Washington Department of Laboratory Medicine, University of Washington
criteria provided, single submitter

(Dines et al. (Genet Med. 2020))		Likely benign
(Mar 23, 2023) 		germlinecuration

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot provided1not providedclinical testing, curation

Citations

PubMed

BRCA1 and BRCA2 mutations in women from Shanghai China.

Suter NM, Ray RM, Hu YW, Lin MG, Porter P, Gao DL, Zaucha RE, Iwasaki LM, Sabacan LP, Langlois MC, Thomas DB, Ostrander EA.

Cancer Epidemiol Biomarkers Prev. 2004 Feb;13(2):181-9.

PubMed [citation]
PMID:
14973102

Detection of BRCA1 and BRCA2 mutations in a selected Hawaii population.

Carney ME, Basiliere MS, Mates K, Sing CK.

Hawaii Med J. 2010 Nov;69(11):268-71.

PubMed [citation]
PMID:
21218378
PMCID:
PMC3071188
See all PubMed Citations (4)

Details of each submission

From Ambry Genetics, SCV000186542.6

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (2)

Description

This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknown1not providednot provided1not providednot providednot provided

From Color Diagnostics, LLC DBA Color Health, SCV000911050.1

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

From University of Washington Department of Laboratory Medicine, University of Washington, SCV003848281.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcuration PubMed (1)

Description

Missense variant in a coldspot region where missense variants are very unlikely to be pathogenic (PMID:31911673).

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

Last Updated: Apr 15, 2024