U.S. flag

An official website of the United States government

NM_007294.4(BRCA1):c.3286C>T (p.Gln1096Ter) AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
May 22, 2020
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:
RCV000486625.11

Allele description [Variation Report for NM_007294.4(BRCA1):c.3286C>T (p.Gln1096Ter)]

NM_007294.4(BRCA1):c.3286C>T (p.Gln1096Ter)

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.3286C>T (p.Gln1096Ter)
HGVS:
  • NC_000017.11:g.43092245G>A
  • NG_005905.2:g.125739C>T
  • NG_087068.1:g.1227G>A
  • NM_001407571.1:c.3073C>T
  • NM_001407581.1:c.3286C>T
  • NM_001407582.1:c.3286C>T
  • NM_001407583.1:c.3286C>T
  • NM_001407585.1:c.3286C>T
  • NM_001407587.1:c.3283C>T
  • NM_001407590.1:c.3283C>T
  • NM_001407591.1:c.3283C>T
  • NM_001407593.1:c.3286C>T
  • NM_001407594.1:c.3286C>T
  • NM_001407596.1:c.3286C>T
  • NM_001407597.1:c.3286C>T
  • NM_001407598.1:c.3286C>T
  • NM_001407602.1:c.3286C>T
  • NM_001407603.1:c.3286C>T
  • NM_001407605.1:c.3286C>T
  • NM_001407610.1:c.3283C>T
  • NM_001407611.1:c.3283C>T
  • NM_001407612.1:c.3283C>T
  • NM_001407613.1:c.3283C>T
  • NM_001407614.1:c.3283C>T
  • NM_001407615.1:c.3283C>T
  • NM_001407616.1:c.3286C>T
  • NM_001407617.1:c.3286C>T
  • NM_001407618.1:c.3286C>T
  • NM_001407619.1:c.3286C>T
  • NM_001407620.1:c.3286C>T
  • NM_001407621.1:c.3286C>T
  • NM_001407622.1:c.3286C>T
  • NM_001407623.1:c.3286C>T
  • NM_001407624.1:c.3286C>T
  • NM_001407625.1:c.3286C>T
  • NM_001407626.1:c.3286C>T
  • NM_001407627.1:c.3283C>T
  • NM_001407628.1:c.3283C>T
  • NM_001407629.1:c.3283C>T
  • NM_001407630.1:c.3283C>T
  • NM_001407631.1:c.3283C>T
  • NM_001407632.1:c.3283C>T
  • NM_001407633.1:c.3283C>T
  • NM_001407634.1:c.3283C>T
  • NM_001407635.1:c.3283C>T
  • NM_001407636.1:c.3283C>T
  • NM_001407637.1:c.3283C>T
  • NM_001407638.1:c.3283C>T
  • NM_001407639.1:c.3286C>T
  • NM_001407640.1:c.3286C>T
  • NM_001407641.1:c.3286C>T
  • NM_001407642.1:c.3286C>T
  • NM_001407644.1:c.3283C>T
  • NM_001407645.1:c.3283C>T
  • NM_001407646.1:c.3277C>T
  • NM_001407647.1:c.3277C>T
  • NM_001407648.1:c.3163C>T
  • NM_001407649.1:c.3160C>T
  • NM_001407652.1:c.3286C>T
  • NM_001407653.1:c.3208C>T
  • NM_001407654.1:c.3208C>T
  • NM_001407655.1:c.3208C>T
  • NM_001407656.1:c.3208C>T
  • NM_001407657.1:c.3208C>T
  • NM_001407658.1:c.3208C>T
  • NM_001407659.1:c.3205C>T
  • NM_001407660.1:c.3205C>T
  • NM_001407661.1:c.3205C>T
  • NM_001407662.1:c.3205C>T
  • NM_001407663.1:c.3208C>T
  • NM_001407664.1:c.3163C>T
  • NM_001407665.1:c.3163C>T
  • NM_001407666.1:c.3163C>T
  • NM_001407667.1:c.3163C>T
  • NM_001407668.1:c.3163C>T
  • NM_001407669.1:c.3163C>T
  • NM_001407670.1:c.3160C>T
  • NM_001407671.1:c.3160C>T
  • NM_001407672.1:c.3160C>T
  • NM_001407673.1:c.3160C>T
  • NM_001407674.1:c.3163C>T
  • NM_001407675.1:c.3163C>T
  • NM_001407676.1:c.3163C>T
  • NM_001407677.1:c.3163C>T
  • NM_001407678.1:c.3163C>T
  • NM_001407679.1:c.3163C>T
  • NM_001407680.1:c.3163C>T
  • NM_001407681.1:c.3163C>T
  • NM_001407682.1:c.3163C>T
  • NM_001407683.1:c.3163C>T
  • NM_001407684.1:c.3286C>T
  • NM_001407685.1:c.3160C>T
  • NM_001407686.1:c.3160C>T
  • NM_001407687.1:c.3160C>T
  • NM_001407688.1:c.3160C>T
  • NM_001407689.1:c.3160C>T
  • NM_001407690.1:c.3160C>T
  • NM_001407691.1:c.3160C>T
  • NM_001407692.1:c.3145C>T
  • NM_001407694.1:c.3145C>T
  • NM_001407695.1:c.3145C>T
  • NM_001407696.1:c.3145C>T
  • NM_001407697.1:c.3145C>T
  • NM_001407698.1:c.3145C>T
  • NM_001407724.1:c.3145C>T
  • NM_001407725.1:c.3145C>T
  • NM_001407726.1:c.3145C>T
  • NM_001407727.1:c.3145C>T
  • NM_001407728.1:c.3145C>T
  • NM_001407729.1:c.3145C>T
  • NM_001407730.1:c.3145C>T
  • NM_001407731.1:c.3145C>T
  • NM_001407732.1:c.3145C>T
  • NM_001407733.1:c.3145C>T
  • NM_001407734.1:c.3145C>T
  • NM_001407735.1:c.3145C>T
  • NM_001407736.1:c.3145C>T
  • NM_001407737.1:c.3145C>T
  • NM_001407738.1:c.3145C>T
  • NM_001407739.1:c.3145C>T
  • NM_001407740.1:c.3142C>T
  • NM_001407741.1:c.3142C>T
  • NM_001407742.1:c.3142C>T
  • NM_001407743.1:c.3142C>T
  • NM_001407744.1:c.3142C>T
  • NM_001407745.1:c.3142C>T
  • NM_001407746.1:c.3142C>T
  • NM_001407747.1:c.3142C>T
  • NM_001407748.1:c.3142C>T
  • NM_001407749.1:c.3142C>T
  • NM_001407750.1:c.3145C>T
  • NM_001407751.1:c.3145C>T
  • NM_001407752.1:c.3145C>T
  • NM_001407838.1:c.3142C>T
  • NM_001407839.1:c.3142C>T
  • NM_001407841.1:c.3142C>T
  • NM_001407842.1:c.3142C>T
  • NM_001407843.1:c.3142C>T
  • NM_001407844.1:c.3142C>T
  • NM_001407845.1:c.3142C>T
  • NM_001407846.1:c.3142C>T
  • NM_001407847.1:c.3142C>T
  • NM_001407848.1:c.3142C>T
  • NM_001407849.1:c.3142C>T
  • NM_001407850.1:c.3145C>T
  • NM_001407851.1:c.3145C>T
  • NM_001407852.1:c.3145C>T
  • NM_001407853.1:c.3073C>T
  • NM_001407854.1:c.3286C>T
  • NM_001407858.1:c.3286C>T
  • NM_001407859.1:c.3286C>T
  • NM_001407860.1:c.3283C>T
  • NM_001407861.1:c.3283C>T
  • NM_001407862.1:c.3085C>T
  • NM_001407863.1:c.3163C>T
  • NM_001407874.1:c.3082C>T
  • NM_001407875.1:c.3082C>T
  • NM_001407879.1:c.3076C>T
  • NM_001407881.1:c.3076C>T
  • NM_001407882.1:c.3076C>T
  • NM_001407884.1:c.3076C>T
  • NM_001407885.1:c.3076C>T
  • NM_001407886.1:c.3076C>T
  • NM_001407887.1:c.3076C>T
  • NM_001407889.1:c.3076C>T
  • NM_001407894.1:c.3073C>T
  • NM_001407895.1:c.3073C>T
  • NM_001407896.1:c.3073C>T
  • NM_001407897.1:c.3073C>T
  • NM_001407898.1:c.3073C>T
  • NM_001407899.1:c.3073C>T
  • NM_001407900.1:c.3076C>T
  • NM_001407902.1:c.3076C>T
  • NM_001407904.1:c.3076C>T
  • NM_001407906.1:c.3076C>T
  • NM_001407907.1:c.3076C>T
  • NM_001407908.1:c.3076C>T
  • NM_001407909.1:c.3076C>T
  • NM_001407910.1:c.3076C>T
  • NM_001407915.1:c.3073C>T
  • NM_001407916.1:c.3073C>T
  • NM_001407917.1:c.3073C>T
  • NM_001407918.1:c.3073C>T
  • NM_001407919.1:c.3163C>T
  • NM_001407920.1:c.3022C>T
  • NM_001407921.1:c.3022C>T
  • NM_001407922.1:c.3022C>T
  • NM_001407923.1:c.3022C>T
  • NM_001407924.1:c.3022C>T
  • NM_001407925.1:c.3022C>T
  • NM_001407926.1:c.3022C>T
  • NM_001407927.1:c.3022C>T
  • NM_001407928.1:c.3022C>T
  • NM_001407929.1:c.3022C>T
  • NM_001407930.1:c.3019C>T
  • NM_001407931.1:c.3019C>T
  • NM_001407932.1:c.3019C>T
  • NM_001407933.1:c.3022C>T
  • NM_001407934.1:c.3019C>T
  • NM_001407935.1:c.3022C>T
  • NM_001407936.1:c.3019C>T
  • NM_001407937.1:c.3163C>T
  • NM_001407938.1:c.3163C>T
  • NM_001407939.1:c.3163C>T
  • NM_001407940.1:c.3160C>T
  • NM_001407941.1:c.3160C>T
  • NM_001407942.1:c.3145C>T
  • NM_001407943.1:c.3142C>T
  • NM_001407944.1:c.3145C>T
  • NM_001407945.1:c.3145C>T
  • NM_001407946.1:c.2953C>T
  • NM_001407947.1:c.2953C>T
  • NM_001407948.1:c.2953C>T
  • NM_001407949.1:c.2953C>T
  • NM_001407950.1:c.2953C>T
  • NM_001407951.1:c.2953C>T
  • NM_001407952.1:c.2953C>T
  • NM_001407953.1:c.2953C>T
  • NM_001407954.1:c.2950C>T
  • NM_001407955.1:c.2950C>T
  • NM_001407956.1:c.2950C>T
  • NM_001407957.1:c.2953C>T
  • NM_001407958.1:c.2950C>T
  • NM_001407959.1:c.2905C>T
  • NM_001407960.1:c.2905C>T
  • NM_001407962.1:c.2902C>T
  • NM_001407963.1:c.2905C>T
  • NM_001407964.1:c.3142C>T
  • NM_001407965.1:c.2782C>T
  • NM_001407966.1:c.2398C>T
  • NM_001407967.1:c.2398C>T
  • NM_001407968.1:c.788-106C>T
  • NM_001407969.1:c.788-106C>T
  • NM_001407970.1:c.788-1213C>T
  • NM_001407971.1:c.788-1213C>T
  • NM_001407972.1:c.785-1213C>T
  • NM_001407973.1:c.788-1213C>T
  • NM_001407974.1:c.788-1213C>T
  • NM_001407975.1:c.788-1213C>T
  • NM_001407976.1:c.788-1213C>T
  • NM_001407977.1:c.788-1213C>T
  • NM_001407978.1:c.788-1213C>T
  • NM_001407979.1:c.788-1213C>T
  • NM_001407980.1:c.788-1213C>T
  • NM_001407981.1:c.788-1213C>T
  • NM_001407982.1:c.788-1213C>T
  • NM_001407983.1:c.788-1213C>T
  • NM_001407984.1:c.785-1213C>T
  • NM_001407985.1:c.785-1213C>T
  • NM_001407986.1:c.785-1213C>T
  • NM_001407990.1:c.788-1213C>T
  • NM_001407991.1:c.785-1213C>T
  • NM_001407992.1:c.785-1213C>T
  • NM_001407993.1:c.788-1213C>T
  • NM_001408392.1:c.785-1213C>T
  • NM_001408396.1:c.785-1213C>T
  • NM_001408397.1:c.785-1213C>T
  • NM_001408398.1:c.785-1213C>T
  • NM_001408399.1:c.785-1213C>T
  • NM_001408400.1:c.785-1213C>T
  • NM_001408401.1:c.785-1213C>T
  • NM_001408402.1:c.785-1213C>T
  • NM_001408403.1:c.788-1213C>T
  • NM_001408404.1:c.788-1213C>T
  • NM_001408406.1:c.791-1222C>T
  • NM_001408407.1:c.785-1213C>T
  • NM_001408408.1:c.779-1213C>T
  • NM_001408409.1:c.710-1213C>T
  • NM_001408410.1:c.647-1213C>T
  • NM_001408411.1:c.710-1213C>T
  • NM_001408412.1:c.710-1213C>T
  • NM_001408413.1:c.707-1213C>T
  • NM_001408414.1:c.710-1213C>T
  • NM_001408415.1:c.710-1213C>T
  • NM_001408416.1:c.707-1213C>T
  • NM_001408418.1:c.671-1213C>T
  • NM_001408419.1:c.671-1213C>T
  • NM_001408420.1:c.671-1213C>T
  • NM_001408421.1:c.668-1213C>T
  • NM_001408422.1:c.671-1213C>T
  • NM_001408423.1:c.671-1213C>T
  • NM_001408424.1:c.668-1213C>T
  • NM_001408425.1:c.665-1213C>T
  • NM_001408426.1:c.665-1213C>T
  • NM_001408427.1:c.665-1213C>T
  • NM_001408428.1:c.665-1213C>T
  • NM_001408429.1:c.665-1213C>T
  • NM_001408430.1:c.665-1213C>T
  • NM_001408431.1:c.668-1213C>T
  • NM_001408432.1:c.662-1213C>T
  • NM_001408433.1:c.662-1213C>T
  • NM_001408434.1:c.662-1213C>T
  • NM_001408435.1:c.662-1213C>T
  • NM_001408436.1:c.665-1213C>T
  • NM_001408437.1:c.665-1213C>T
  • NM_001408438.1:c.665-1213C>T
  • NM_001408439.1:c.665-1213C>T
  • NM_001408440.1:c.665-1213C>T
  • NM_001408441.1:c.665-1213C>T
  • NM_001408442.1:c.665-1213C>T
  • NM_001408443.1:c.665-1213C>T
  • NM_001408444.1:c.665-1213C>T
  • NM_001408445.1:c.662-1213C>T
  • NM_001408446.1:c.662-1213C>T
  • NM_001408447.1:c.662-1213C>T
  • NM_001408448.1:c.662-1213C>T
  • NM_001408450.1:c.662-1213C>T
  • NM_001408451.1:c.653-1213C>T
  • NM_001408452.1:c.647-1213C>T
  • NM_001408453.1:c.647-1213C>T
  • NM_001408454.1:c.647-1213C>T
  • NM_001408455.1:c.647-1213C>T
  • NM_001408456.1:c.647-1213C>T
  • NM_001408457.1:c.647-1213C>T
  • NM_001408458.1:c.647-1213C>T
  • NM_001408459.1:c.647-1213C>T
  • NM_001408460.1:c.647-1213C>T
  • NM_001408461.1:c.647-1213C>T
  • NM_001408462.1:c.644-1213C>T
  • NM_001408463.1:c.644-1213C>T
  • NM_001408464.1:c.644-1213C>T
  • NM_001408465.1:c.644-1213C>T
  • NM_001408466.1:c.647-1213C>T
  • NM_001408467.1:c.647-1213C>T
  • NM_001408468.1:c.644-1213C>T
  • NM_001408469.1:c.647-1213C>T
  • NM_001408470.1:c.644-1213C>T
  • NM_001408472.1:c.788-1213C>T
  • NM_001408473.1:c.785-1213C>T
  • NM_001408474.1:c.587-1213C>T
  • NM_001408475.1:c.584-1213C>T
  • NM_001408476.1:c.587-1213C>T
  • NM_001408478.1:c.578-1213C>T
  • NM_001408479.1:c.578-1213C>T
  • NM_001408480.1:c.578-1213C>T
  • NM_001408481.1:c.578-1213C>T
  • NM_001408482.1:c.578-1213C>T
  • NM_001408483.1:c.578-1213C>T
  • NM_001408484.1:c.578-1213C>T
  • NM_001408485.1:c.578-1213C>T
  • NM_001408489.1:c.578-1213C>T
  • NM_001408490.1:c.575-1213C>T
  • NM_001408491.1:c.575-1213C>T
  • NM_001408492.1:c.578-1213C>T
  • NM_001408493.1:c.575-1213C>T
  • NM_001408494.1:c.548-1213C>T
  • NM_001408495.1:c.545-1213C>T
  • NM_001408496.1:c.524-1213C>T
  • NM_001408497.1:c.524-1213C>T
  • NM_001408498.1:c.524-1213C>T
  • NM_001408499.1:c.524-1213C>T
  • NM_001408500.1:c.524-1213C>T
  • NM_001408501.1:c.524-1213C>T
  • NM_001408502.1:c.455-1213C>T
  • NM_001408503.1:c.521-1213C>T
  • NM_001408504.1:c.521-1213C>T
  • NM_001408505.1:c.521-1213C>T
  • NM_001408506.1:c.461-1213C>T
  • NM_001408507.1:c.461-1213C>T
  • NM_001408508.1:c.452-1213C>T
  • NM_001408509.1:c.452-1213C>T
  • NM_001408510.1:c.407-1213C>T
  • NM_001408511.1:c.404-1213C>T
  • NM_001408512.1:c.284-1213C>T
  • NM_001408513.1:c.578-1213C>T
  • NM_001408514.1:c.578-1213C>T
  • NM_007294.4:c.3286C>TMANE SELECT
  • NM_007297.4:c.3145C>T
  • NM_007298.4:c.788-1213C>T
  • NM_007299.4:c.788-1213C>T
  • NM_007300.4:c.3286C>T
  • NP_001394500.1:p.Gln1025Ter
  • NP_001394510.1:p.Gln1096Ter
  • NP_001394511.1:p.Gln1096Ter
  • NP_001394512.1:p.Gln1096Ter
  • NP_001394514.1:p.Gln1096Ter
  • NP_001394516.1:p.Gln1095Ter
  • NP_001394519.1:p.Gln1095Ter
  • NP_001394520.1:p.Gln1095Ter
  • NP_001394522.1:p.Gln1096Ter
  • NP_001394523.1:p.Gln1096Ter
  • NP_001394525.1:p.Gln1096Ter
  • NP_001394526.1:p.Gln1096Ter
  • NP_001394527.1:p.Gln1096Ter
  • NP_001394531.1:p.Gln1096Ter
  • NP_001394532.1:p.Gln1096Ter
  • NP_001394534.1:p.Gln1096Ter
  • NP_001394539.1:p.Gln1095Ter
  • NP_001394540.1:p.Gln1095Ter
  • NP_001394541.1:p.Gln1095Ter
  • NP_001394542.1:p.Gln1095Ter
  • NP_001394543.1:p.Gln1095Ter
  • NP_001394544.1:p.Gln1095Ter
  • NP_001394545.1:p.Gln1096Ter
  • NP_001394546.1:p.Gln1096Ter
  • NP_001394547.1:p.Gln1096Ter
  • NP_001394548.1:p.Gln1096Ter
  • NP_001394549.1:p.Gln1096Ter
  • NP_001394550.1:p.Gln1096Ter
  • NP_001394551.1:p.Gln1096Ter
  • NP_001394552.1:p.Gln1096Ter
  • NP_001394553.1:p.Gln1096Ter
  • NP_001394554.1:p.Gln1096Ter
  • NP_001394555.1:p.Gln1096Ter
  • NP_001394556.1:p.Gln1095Ter
  • NP_001394557.1:p.Gln1095Ter
  • NP_001394558.1:p.Gln1095Ter
  • NP_001394559.1:p.Gln1095Ter
  • NP_001394560.1:p.Gln1095Ter
  • NP_001394561.1:p.Gln1095Ter
  • NP_001394562.1:p.Gln1095Ter
  • NP_001394563.1:p.Gln1095Ter
  • NP_001394564.1:p.Gln1095Ter
  • NP_001394565.1:p.Gln1095Ter
  • NP_001394566.1:p.Gln1095Ter
  • NP_001394567.1:p.Gln1095Ter
  • NP_001394568.1:p.Gln1096Ter
  • NP_001394569.1:p.Gln1096Ter
  • NP_001394570.1:p.Gln1096Ter
  • NP_001394571.1:p.Gln1096Ter
  • NP_001394573.1:p.Gln1095Ter
  • NP_001394574.1:p.Gln1095Ter
  • NP_001394575.1:p.Gln1093Ter
  • NP_001394576.1:p.Gln1093Ter
  • NP_001394577.1:p.Gln1055Ter
  • NP_001394578.1:p.Gln1054Ter
  • NP_001394581.1:p.Gln1096Ter
  • NP_001394582.1:p.Gln1070Ter
  • NP_001394583.1:p.Gln1070Ter
  • NP_001394584.1:p.Gln1070Ter
  • NP_001394585.1:p.Gln1070Ter
  • NP_001394586.1:p.Gln1070Ter
  • NP_001394587.1:p.Gln1070Ter
  • NP_001394588.1:p.Gln1069Ter
  • NP_001394589.1:p.Gln1069Ter
  • NP_001394590.1:p.Gln1069Ter
  • NP_001394591.1:p.Gln1069Ter
  • NP_001394592.1:p.Gln1070Ter
  • NP_001394593.1:p.Gln1055Ter
  • NP_001394594.1:p.Gln1055Ter
  • NP_001394595.1:p.Gln1055Ter
  • NP_001394596.1:p.Gln1055Ter
  • NP_001394597.1:p.Gln1055Ter
  • NP_001394598.1:p.Gln1055Ter
  • NP_001394599.1:p.Gln1054Ter
  • NP_001394600.1:p.Gln1054Ter
  • NP_001394601.1:p.Gln1054Ter
  • NP_001394602.1:p.Gln1054Ter
  • NP_001394603.1:p.Gln1055Ter
  • NP_001394604.1:p.Gln1055Ter
  • NP_001394605.1:p.Gln1055Ter
  • NP_001394606.1:p.Gln1055Ter
  • NP_001394607.1:p.Gln1055Ter
  • NP_001394608.1:p.Gln1055Ter
  • NP_001394609.1:p.Gln1055Ter
  • NP_001394610.1:p.Gln1055Ter
  • NP_001394611.1:p.Gln1055Ter
  • NP_001394612.1:p.Gln1055Ter
  • NP_001394613.1:p.Gln1096Ter
  • NP_001394614.1:p.Gln1054Ter
  • NP_001394615.1:p.Gln1054Ter
  • NP_001394616.1:p.Gln1054Ter
  • NP_001394617.1:p.Gln1054Ter
  • NP_001394618.1:p.Gln1054Ter
  • NP_001394619.1:p.Gln1054Ter
  • NP_001394620.1:p.Gln1054Ter
  • NP_001394621.1:p.Gln1049Ter
  • NP_001394623.1:p.Gln1049Ter
  • NP_001394624.1:p.Gln1049Ter
  • NP_001394625.1:p.Gln1049Ter
  • NP_001394626.1:p.Gln1049Ter
  • NP_001394627.1:p.Gln1049Ter
  • NP_001394653.1:p.Gln1049Ter
  • NP_001394654.1:p.Gln1049Ter
  • NP_001394655.1:p.Gln1049Ter
  • NP_001394656.1:p.Gln1049Ter
  • NP_001394657.1:p.Gln1049Ter
  • NP_001394658.1:p.Gln1049Ter
  • NP_001394659.1:p.Gln1049Ter
  • NP_001394660.1:p.Gln1049Ter
  • NP_001394661.1:p.Gln1049Ter
  • NP_001394662.1:p.Gln1049Ter
  • NP_001394663.1:p.Gln1049Ter
  • NP_001394664.1:p.Gln1049Ter
  • NP_001394665.1:p.Gln1049Ter
  • NP_001394666.1:p.Gln1049Ter
  • NP_001394667.1:p.Gln1049Ter
  • NP_001394668.1:p.Gln1049Ter
  • NP_001394669.1:p.Gln1048Ter
  • NP_001394670.1:p.Gln1048Ter
  • NP_001394671.1:p.Gln1048Ter
  • NP_001394672.1:p.Gln1048Ter
  • NP_001394673.1:p.Gln1048Ter
  • NP_001394674.1:p.Gln1048Ter
  • NP_001394675.1:p.Gln1048Ter
  • NP_001394676.1:p.Gln1048Ter
  • NP_001394677.1:p.Gln1048Ter
  • NP_001394678.1:p.Gln1048Ter
  • NP_001394679.1:p.Gln1049Ter
  • NP_001394680.1:p.Gln1049Ter
  • NP_001394681.1:p.Gln1049Ter
  • NP_001394767.1:p.Gln1048Ter
  • NP_001394768.1:p.Gln1048Ter
  • NP_001394770.1:p.Gln1048Ter
  • NP_001394771.1:p.Gln1048Ter
  • NP_001394772.1:p.Gln1048Ter
  • NP_001394773.1:p.Gln1048Ter
  • NP_001394774.1:p.Gln1048Ter
  • NP_001394775.1:p.Gln1048Ter
  • NP_001394776.1:p.Gln1048Ter
  • NP_001394777.1:p.Gln1048Ter
  • NP_001394778.1:p.Gln1048Ter
  • NP_001394779.1:p.Gln1049Ter
  • NP_001394780.1:p.Gln1049Ter
  • NP_001394781.1:p.Gln1049Ter
  • NP_001394782.1:p.Gln1025Ter
  • NP_001394783.1:p.Gln1096Ter
  • NP_001394787.1:p.Gln1096Ter
  • NP_001394788.1:p.Gln1096Ter
  • NP_001394789.1:p.Gln1095Ter
  • NP_001394790.1:p.Gln1095Ter
  • NP_001394791.1:p.Gln1029Ter
  • NP_001394792.1:p.Gln1055Ter
  • NP_001394803.1:p.Gln1028Ter
  • NP_001394804.1:p.Gln1028Ter
  • NP_001394808.1:p.Gln1026Ter
  • NP_001394810.1:p.Gln1026Ter
  • NP_001394811.1:p.Gln1026Ter
  • NP_001394813.1:p.Gln1026Ter
  • NP_001394814.1:p.Gln1026Ter
  • NP_001394815.1:p.Gln1026Ter
  • NP_001394816.1:p.Gln1026Ter
  • NP_001394818.1:p.Gln1026Ter
  • NP_001394823.1:p.Gln1025Ter
  • NP_001394824.1:p.Gln1025Ter
  • NP_001394825.1:p.Gln1025Ter
  • NP_001394826.1:p.Gln1025Ter
  • NP_001394827.1:p.Gln1025Ter
  • NP_001394828.1:p.Gln1025Ter
  • NP_001394829.1:p.Gln1026Ter
  • NP_001394831.1:p.Gln1026Ter
  • NP_001394833.1:p.Gln1026Ter
  • NP_001394835.1:p.Gln1026Ter
  • NP_001394836.1:p.Gln1026Ter
  • NP_001394837.1:p.Gln1026Ter
  • NP_001394838.1:p.Gln1026Ter
  • NP_001394839.1:p.Gln1026Ter
  • NP_001394844.1:p.Gln1025Ter
  • NP_001394845.1:p.Gln1025Ter
  • NP_001394846.1:p.Gln1025Ter
  • NP_001394847.1:p.Gln1025Ter
  • NP_001394848.1:p.Gln1055Ter
  • NP_001394849.1:p.Gln1008Ter
  • NP_001394850.1:p.Gln1008Ter
  • NP_001394851.1:p.Gln1008Ter
  • NP_001394852.1:p.Gln1008Ter
  • NP_001394853.1:p.Gln1008Ter
  • NP_001394854.1:p.Gln1008Ter
  • NP_001394855.1:p.Gln1008Ter
  • NP_001394856.1:p.Gln1008Ter
  • NP_001394857.1:p.Gln1008Ter
  • NP_001394858.1:p.Gln1008Ter
  • NP_001394859.1:p.Gln1007Ter
  • NP_001394860.1:p.Gln1007Ter
  • NP_001394861.1:p.Gln1007Ter
  • NP_001394862.1:p.Gln1008Ter
  • NP_001394863.1:p.Gln1007Ter
  • NP_001394864.1:p.Gln1008Ter
  • NP_001394865.1:p.Gln1007Ter
  • NP_001394866.1:p.Gln1055Ter
  • NP_001394867.1:p.Gln1055Ter
  • NP_001394868.1:p.Gln1055Ter
  • NP_001394869.1:p.Gln1054Ter
  • NP_001394870.1:p.Gln1054Ter
  • NP_001394871.1:p.Gln1049Ter
  • NP_001394872.1:p.Gln1048Ter
  • NP_001394873.1:p.Gln1049Ter
  • NP_001394874.1:p.Gln1049Ter
  • NP_001394875.1:p.Gln985Ter
  • NP_001394876.1:p.Gln985Ter
  • NP_001394877.1:p.Gln985Ter
  • NP_001394878.1:p.Gln985Ter
  • NP_001394879.1:p.Gln985Ter
  • NP_001394880.1:p.Gln985Ter
  • NP_001394881.1:p.Gln985Ter
  • NP_001394882.1:p.Gln985Ter
  • NP_001394883.1:p.Gln984Ter
  • NP_001394884.1:p.Gln984Ter
  • NP_001394885.1:p.Gln984Ter
  • NP_001394886.1:p.Gln985Ter
  • NP_001394887.1:p.Gln984Ter
  • NP_001394888.1:p.Gln969Ter
  • NP_001394889.1:p.Gln969Ter
  • NP_001394891.1:p.Gln968Ter
  • NP_001394892.1:p.Gln969Ter
  • NP_001394893.1:p.Gln1048Ter
  • NP_001394894.1:p.Gln928Ter
  • NP_001394895.1:p.Gln800Ter
  • NP_001394896.1:p.Gln800Ter
  • NP_009225.1:p.Gln1096Ter
  • NP_009225.1:p.Gln1096Ter
  • NP_009228.2:p.Gln1049Ter
  • NP_009231.2:p.Gln1096Ter
  • LRG_292t1:c.3286C>T
  • LRG_292:g.125739C>T
  • LRG_292p1:p.Gln1096Ter
  • NC_000017.10:g.41244262G>A
  • NM_007294.3:c.3286C>T
  • NM_007300.3:c.3286C>T
  • NR_027676.1:n.3422C>T
  • U14680.1:n.3405C>T
Protein change:
Q1007*
Links:
dbSNP: rs80357485
NCBI 1000 Genomes Browser:
rs80357485
Molecular consequence:
  • NM_001407968.1:c.788-106C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407969.1:c.788-106C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407970.1:c.788-1213C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407971.1:c.788-1213C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407972.1:c.785-1213C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407973.1:c.788-1213C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407974.1:c.788-1213C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407975.1:c.788-1213C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407976.1:c.788-1213C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407977.1:c.788-1213C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407978.1:c.788-1213C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407979.1:c.788-1213C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407980.1:c.788-1213C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407981.1:c.788-1213C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407982.1:c.788-1213C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407983.1:c.788-1213C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407984.1:c.785-1213C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407985.1:c.785-1213C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407986.1:c.785-1213C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407990.1:c.788-1213C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407991.1:c.785-1213C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407992.1:c.785-1213C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407993.1:c.788-1213C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408392.1:c.785-1213C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408396.1:c.785-1213C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408397.1:c.785-1213C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408398.1:c.785-1213C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408399.1:c.785-1213C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408400.1:c.785-1213C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408401.1:c.785-1213C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408402.1:c.785-1213C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408403.1:c.788-1213C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408404.1:c.788-1213C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408406.1:c.791-1222C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408407.1:c.785-1213C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408408.1:c.779-1213C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408409.1:c.710-1213C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408410.1:c.647-1213C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408411.1:c.710-1213C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408412.1:c.710-1213C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408413.1:c.707-1213C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408414.1:c.710-1213C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408415.1:c.710-1213C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408416.1:c.707-1213C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408418.1:c.671-1213C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408419.1:c.671-1213C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408420.1:c.671-1213C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408421.1:c.668-1213C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408422.1:c.671-1213C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408423.1:c.671-1213C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408424.1:c.668-1213C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408425.1:c.665-1213C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408426.1:c.665-1213C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408427.1:c.665-1213C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408428.1:c.665-1213C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408429.1:c.665-1213C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408430.1:c.665-1213C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408431.1:c.668-1213C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408432.1:c.662-1213C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408433.1:c.662-1213C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408434.1:c.662-1213C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408435.1:c.662-1213C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408436.1:c.665-1213C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408437.1:c.665-1213C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408438.1:c.665-1213C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408439.1:c.665-1213C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408440.1:c.665-1213C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408441.1:c.665-1213C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408442.1:c.665-1213C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408443.1:c.665-1213C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408444.1:c.665-1213C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408445.1:c.662-1213C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408446.1:c.662-1213C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408447.1:c.662-1213C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408448.1:c.662-1213C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408450.1:c.662-1213C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408451.1:c.653-1213C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408452.1:c.647-1213C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408453.1:c.647-1213C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408454.1:c.647-1213C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408455.1:c.647-1213C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408456.1:c.647-1213C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408457.1:c.647-1213C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408458.1:c.647-1213C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408459.1:c.647-1213C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408460.1:c.647-1213C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408461.1:c.647-1213C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408462.1:c.644-1213C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408463.1:c.644-1213C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408464.1:c.644-1213C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408465.1:c.644-1213C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408466.1:c.647-1213C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408467.1:c.647-1213C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408468.1:c.644-1213C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408469.1:c.647-1213C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408470.1:c.644-1213C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408472.1:c.788-1213C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408473.1:c.785-1213C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408474.1:c.587-1213C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408475.1:c.584-1213C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408476.1:c.587-1213C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408478.1:c.578-1213C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408479.1:c.578-1213C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408480.1:c.578-1213C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408481.1:c.578-1213C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408482.1:c.578-1213C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408483.1:c.578-1213C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408484.1:c.578-1213C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408485.1:c.578-1213C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408489.1:c.578-1213C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408490.1:c.575-1213C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408491.1:c.575-1213C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408492.1:c.578-1213C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408493.1:c.575-1213C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408494.1:c.548-1213C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408495.1:c.545-1213C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408496.1:c.524-1213C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408497.1:c.524-1213C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408498.1:c.524-1213C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408499.1:c.524-1213C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408500.1:c.524-1213C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408501.1:c.524-1213C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408502.1:c.455-1213C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408503.1:c.521-1213C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408504.1:c.521-1213C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408505.1:c.521-1213C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408506.1:c.461-1213C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408507.1:c.461-1213C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408508.1:c.452-1213C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408509.1:c.452-1213C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408510.1:c.407-1213C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408511.1:c.404-1213C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408512.1:c.284-1213C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408513.1:c.578-1213C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408514.1:c.578-1213C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007298.4:c.788-1213C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007299.4:c.788-1213C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407571.1:c.3073C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407581.1:c.3286C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407582.1:c.3286C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407583.1:c.3286C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407585.1:c.3286C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407587.1:c.3283C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407590.1:c.3283C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407591.1:c.3283C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407593.1:c.3286C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407594.1:c.3286C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407596.1:c.3286C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407597.1:c.3286C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407598.1:c.3286C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407602.1:c.3286C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407603.1:c.3286C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407605.1:c.3286C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407610.1:c.3283C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407611.1:c.3283C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407612.1:c.3283C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407613.1:c.3283C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407614.1:c.3283C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407615.1:c.3283C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407616.1:c.3286C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407617.1:c.3286C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407618.1:c.3286C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407619.1:c.3286C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407620.1:c.3286C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407621.1:c.3286C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407622.1:c.3286C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407623.1:c.3286C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407624.1:c.3286C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407625.1:c.3286C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407626.1:c.3286C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407627.1:c.3283C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407628.1:c.3283C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407629.1:c.3283C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407630.1:c.3283C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407631.1:c.3283C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407632.1:c.3283C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407633.1:c.3283C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407634.1:c.3283C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407635.1:c.3283C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407636.1:c.3283C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407637.1:c.3283C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407638.1:c.3283C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407639.1:c.3286C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407640.1:c.3286C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407641.1:c.3286C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407642.1:c.3286C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407644.1:c.3283C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407645.1:c.3283C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407646.1:c.3277C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407647.1:c.3277C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407648.1:c.3163C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407649.1:c.3160C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407652.1:c.3286C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407653.1:c.3208C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407654.1:c.3208C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407655.1:c.3208C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407656.1:c.3208C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407657.1:c.3208C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407658.1:c.3208C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407659.1:c.3205C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407660.1:c.3205C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407661.1:c.3205C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407662.1:c.3205C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407663.1:c.3208C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407664.1:c.3163C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407665.1:c.3163C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407666.1:c.3163C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407667.1:c.3163C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407668.1:c.3163C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407669.1:c.3163C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407670.1:c.3160C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407671.1:c.3160C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407672.1:c.3160C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407673.1:c.3160C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407674.1:c.3163C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407675.1:c.3163C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407676.1:c.3163C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407677.1:c.3163C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407678.1:c.3163C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407679.1:c.3163C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407680.1:c.3163C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407681.1:c.3163C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407682.1:c.3163C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407683.1:c.3163C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407684.1:c.3286C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407685.1:c.3160C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407686.1:c.3160C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407687.1:c.3160C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407688.1:c.3160C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407689.1:c.3160C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407690.1:c.3160C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407691.1:c.3160C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407692.1:c.3145C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407694.1:c.3145C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407695.1:c.3145C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407696.1:c.3145C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407697.1:c.3145C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407698.1:c.3145C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407724.1:c.3145C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407725.1:c.3145C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407726.1:c.3145C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407727.1:c.3145C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407728.1:c.3145C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407729.1:c.3145C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407730.1:c.3145C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407731.1:c.3145C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407732.1:c.3145C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407733.1:c.3145C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407734.1:c.3145C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407735.1:c.3145C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407736.1:c.3145C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407737.1:c.3145C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407738.1:c.3145C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407739.1:c.3145C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407740.1:c.3142C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407741.1:c.3142C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407742.1:c.3142C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407743.1:c.3142C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407744.1:c.3142C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407745.1:c.3142C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407746.1:c.3142C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407747.1:c.3142C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407748.1:c.3142C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407749.1:c.3142C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407750.1:c.3145C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407751.1:c.3145C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407752.1:c.3145C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407838.1:c.3142C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407839.1:c.3142C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407841.1:c.3142C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407842.1:c.3142C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407843.1:c.3142C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407844.1:c.3142C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407845.1:c.3142C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407846.1:c.3142C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407847.1:c.3142C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407848.1:c.3142C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407849.1:c.3142C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407850.1:c.3145C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407851.1:c.3145C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407852.1:c.3145C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407853.1:c.3073C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407854.1:c.3286C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407858.1:c.3286C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407859.1:c.3286C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407860.1:c.3283C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407861.1:c.3283C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407862.1:c.3085C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407863.1:c.3163C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407874.1:c.3082C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407875.1:c.3082C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407879.1:c.3076C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407881.1:c.3076C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407882.1:c.3076C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407884.1:c.3076C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407885.1:c.3076C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407886.1:c.3076C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407887.1:c.3076C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407889.1:c.3076C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407894.1:c.3073C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407895.1:c.3073C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407896.1:c.3073C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407897.1:c.3073C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407898.1:c.3073C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407899.1:c.3073C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407900.1:c.3076C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407902.1:c.3076C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407904.1:c.3076C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407906.1:c.3076C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407907.1:c.3076C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407908.1:c.3076C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407909.1:c.3076C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407910.1:c.3076C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407915.1:c.3073C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407916.1:c.3073C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407917.1:c.3073C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407918.1:c.3073C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407919.1:c.3163C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407920.1:c.3022C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407921.1:c.3022C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407922.1:c.3022C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407923.1:c.3022C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407924.1:c.3022C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407925.1:c.3022C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407926.1:c.3022C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407927.1:c.3022C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407928.1:c.3022C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407929.1:c.3022C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407930.1:c.3019C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407931.1:c.3019C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407932.1:c.3019C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407933.1:c.3022C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407934.1:c.3019C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407935.1:c.3022C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407936.1:c.3019C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407937.1:c.3163C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407938.1:c.3163C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407939.1:c.3163C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407940.1:c.3160C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407941.1:c.3160C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407942.1:c.3145C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407943.1:c.3142C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407944.1:c.3145C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407945.1:c.3145C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407946.1:c.2953C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407947.1:c.2953C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407948.1:c.2953C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407949.1:c.2953C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407950.1:c.2953C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407951.1:c.2953C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407952.1:c.2953C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407953.1:c.2953C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407954.1:c.2950C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407955.1:c.2950C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407956.1:c.2950C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407957.1:c.2953C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407958.1:c.2950C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407959.1:c.2905C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407960.1:c.2905C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407962.1:c.2902C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407963.1:c.2905C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407964.1:c.3142C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407965.1:c.2782C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407966.1:c.2398C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407967.1:c.2398C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_007294.4:c.3286C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_007297.4:c.3145C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_007300.4:c.3286C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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
SCV000568409GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)		Pathogenic
(May 22, 2020) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From GeneDx, SCV000568409.6

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

Description

Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Truncating variants in this gene are considered pathogenic by a well-established clinical consortium and/or database; Not observed in large population cohorts (Lek 2016); Also known as BRCA1 c.3405C>T; This variant is associated with the following publications: (PMID: 12181777, 15617999, 26083025, 25682074, 25525159, 25722380, 26187060, 28294317, 29446198, 30702160, 31825140, 32885271)

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

Last Updated: Sep 16, 2024