U.S. flag

An official website of the United States government

NM_007294.4(BRCA1):c.4354A>T (p.Lys1452Ter) AND Hereditary cancer-predisposing syndrome

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Nov 26, 2019
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:
RCV002326792.2

Allele description [Variation Report for NM_007294.4(BRCA1):c.4354A>T (p.Lys1452Ter)]

NM_007294.4(BRCA1):c.4354A>T (p.Lys1452Ter)

Gene:
BRCA1:BRCA1 DNA repair associated [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17q21.31
Genomic location:
Preferred name:
NM_007294.4(BRCA1):c.4354A>T (p.Lys1452Ter)
Other names:
p.K1452X:AAA>TAA
HGVS:
  • NC_000017.11:g.43082407T>A
  • NG_005905.2:g.135577A>T
  • NM_001407571.1:c.4141A>T
  • NM_001407581.1:c.4354A>T
  • NM_001407582.1:c.4354A>T
  • NM_001407583.1:c.4354A>T
  • NM_001407585.1:c.4354A>T
  • NM_001407587.1:c.4351A>T
  • NM_001407590.1:c.4351A>T
  • NM_001407591.1:c.4351A>T
  • NM_001407593.1:c.4354A>T
  • NM_001407594.1:c.4354A>T
  • NM_001407596.1:c.4354A>T
  • NM_001407597.1:c.4354A>T
  • NM_001407598.1:c.4354A>T
  • NM_001407602.1:c.4354A>T
  • NM_001407603.1:c.4354A>T
  • NM_001407605.1:c.4354A>T
  • NM_001407610.1:c.4351A>T
  • NM_001407611.1:c.4351A>T
  • NM_001407612.1:c.4351A>T
  • NM_001407613.1:c.4351A>T
  • NM_001407614.1:c.4351A>T
  • NM_001407615.1:c.4351A>T
  • NM_001407616.1:c.4354A>T
  • NM_001407617.1:c.4354A>T
  • NM_001407618.1:c.4354A>T
  • NM_001407619.1:c.4354A>T
  • NM_001407620.1:c.4354A>T
  • NM_001407621.1:c.4354A>T
  • NM_001407622.1:c.4354A>T
  • NM_001407623.1:c.4354A>T
  • NM_001407624.1:c.4351A>T
  • NM_001407625.1:c.4351A>T
  • NM_001407626.1:c.4351A>T
  • NM_001407627.1:c.4348A>T
  • NM_001407628.1:c.4348A>T
  • NM_001407629.1:c.4348A>T
  • NM_001407630.1:c.4348A>T
  • NM_001407631.1:c.4348A>T
  • NM_001407632.1:c.4348A>T
  • NM_001407633.1:c.4351A>T
  • NM_001407634.1:c.4351A>T
  • NM_001407635.1:c.4351A>T
  • NM_001407636.1:c.4351A>T
  • NM_001407637.1:c.4351A>T
  • NM_001407638.1:c.4351A>T
  • NM_001407639.1:c.4351A>T
  • NM_001407640.1:c.4351A>T
  • NM_001407641.1:c.4351A>T
  • NM_001407642.1:c.4351A>T
  • NM_001407644.1:c.4348A>T
  • NM_001407645.1:c.4348A>T
  • NM_001407646.1:c.4342A>T
  • NM_001407647.1:c.4342A>T
  • NM_001407648.1:c.4231A>T
  • NM_001407649.1:c.4228A>T
  • NM_001407652.1:c.4354A>T
  • NM_001407653.1:c.4276A>T
  • NM_001407654.1:c.4276A>T
  • NM_001407655.1:c.4276A>T
  • NM_001407656.1:c.4273A>T
  • NM_001407657.1:c.4276A>T
  • NM_001407658.1:c.4276A>T
  • NM_001407659.1:c.4270A>T
  • NM_001407660.1:c.4270A>T
  • NM_001407661.1:c.4273A>T
  • NM_001407662.1:c.4273A>T
  • NM_001407663.1:c.4273A>T
  • NM_001407664.1:c.4231A>T
  • NM_001407665.1:c.4231A>T
  • NM_001407666.1:c.4231A>T
  • NM_001407667.1:c.4231A>T
  • NM_001407668.1:c.4231A>T
  • NM_001407669.1:c.4231A>T
  • NM_001407670.1:c.4228A>T
  • NM_001407671.1:c.4228A>T
  • NM_001407672.1:c.4228A>T
  • NM_001407673.1:c.4228A>T
  • NM_001407674.1:c.4228A>T
  • NM_001407675.1:c.4228A>T
  • NM_001407676.1:c.4228A>T
  • NM_001407677.1:c.4231A>T
  • NM_001407678.1:c.4231A>T
  • NM_001407679.1:c.4231A>T
  • NM_001407680.1:c.4231A>T
  • NM_001407681.1:c.4228A>T
  • NM_001407682.1:c.4228A>T
  • NM_001407683.1:c.4228A>T
  • NM_001407684.1:c.4354A>T
  • NM_001407685.1:c.4225A>T
  • NM_001407686.1:c.4225A>T
  • NM_001407687.1:c.4225A>T
  • NM_001407688.1:c.4228A>T
  • NM_001407689.1:c.4228A>T
  • NM_001407690.1:c.4225A>T
  • NM_001407691.1:c.4225A>T
  • NM_001407692.1:c.4213A>T
  • NM_001407694.1:c.4213A>T
  • NM_001407695.1:c.4213A>T
  • NM_001407696.1:c.4213A>T
  • NM_001407697.1:c.4213A>T
  • NM_001407698.1:c.4213A>T
  • NM_001407724.1:c.4213A>T
  • NM_001407725.1:c.4213A>T
  • NM_001407726.1:c.4213A>T
  • NM_001407727.1:c.4213A>T
  • NM_001407728.1:c.4213A>T
  • NM_001407729.1:c.4213A>T
  • NM_001407730.1:c.4213A>T
  • NM_001407731.1:c.4213A>T
  • NM_001407732.1:c.4213A>T
  • NM_001407733.1:c.4213A>T
  • NM_001407734.1:c.4213A>T
  • NM_001407735.1:c.4213A>T
  • NM_001407736.1:c.4213A>T
  • NM_001407737.1:c.4213A>T
  • NM_001407738.1:c.4213A>T
  • NM_001407739.1:c.4213A>T
  • NM_001407740.1:c.4210A>T
  • NM_001407741.1:c.4210A>T
  • NM_001407742.1:c.4210A>T
  • NM_001407743.1:c.4210A>T
  • NM_001407744.1:c.4210A>T
  • NM_001407745.1:c.4210A>T
  • NM_001407746.1:c.4210A>T
  • NM_001407747.1:c.4210A>T
  • NM_001407748.1:c.4210A>T
  • NM_001407749.1:c.4210A>T
  • NM_001407750.1:c.4210A>T
  • NM_001407751.1:c.4210A>T
  • NM_001407752.1:c.4210A>T
  • NM_001407838.1:c.4210A>T
  • NM_001407839.1:c.4210A>T
  • NM_001407841.1:c.4210A>T
  • NM_001407842.1:c.4210A>T
  • NM_001407843.1:c.4210A>T
  • NM_001407844.1:c.4210A>T
  • NM_001407845.1:c.4210A>T
  • NM_001407846.1:c.4210A>T
  • NM_001407847.1:c.4207A>T
  • NM_001407848.1:c.4207A>T
  • NM_001407849.1:c.4207A>T
  • NM_001407850.1:c.4210A>T
  • NM_001407851.1:c.4210A>T
  • NM_001407852.1:c.4210A>T
  • NM_001407853.1:c.4141A>T
  • NM_001407854.1:c.4354A>T
  • NM_001407858.1:c.4354A>T
  • NM_001407859.1:c.4354A>T
  • NM_001407860.1:c.4351A>T
  • NM_001407861.1:c.4351A>T
  • NM_001407862.1:c.4153A>T
  • NM_001407863.1:c.4231A>T
  • NM_001407874.1:c.4150A>T
  • NM_001407875.1:c.4150A>T
  • NM_001407879.1:c.4144A>T
  • NM_001407881.1:c.4144A>T
  • NM_001407882.1:c.4144A>T
  • NM_001407884.1:c.4144A>T
  • NM_001407885.1:c.4144A>T
  • NM_001407886.1:c.4144A>T
  • NM_001407887.1:c.4144A>T
  • NM_001407889.1:c.4144A>T
  • NM_001407894.1:c.4141A>T
  • NM_001407895.1:c.4141A>T
  • NM_001407896.1:c.4141A>T
  • NM_001407897.1:c.4141A>T
  • NM_001407898.1:c.4141A>T
  • NM_001407899.1:c.4141A>T
  • NM_001407900.1:c.4144A>T
  • NM_001407902.1:c.4144A>T
  • NM_001407904.1:c.4144A>T
  • NM_001407906.1:c.4144A>T
  • NM_001407907.1:c.4141A>T
  • NM_001407908.1:c.4141A>T
  • NM_001407909.1:c.4141A>T
  • NM_001407910.1:c.4141A>T
  • NM_001407915.1:c.4138A>T
  • NM_001407916.1:c.4141A>T
  • NM_001407917.1:c.4141A>T
  • NM_001407918.1:c.4141A>T
  • NM_001407919.1:c.4231A>T
  • NM_001407920.1:c.4090A>T
  • NM_001407921.1:c.4090A>T
  • NM_001407922.1:c.4090A>T
  • NM_001407923.1:c.4090A>T
  • NM_001407924.1:c.4090A>T
  • NM_001407925.1:c.4090A>T
  • NM_001407926.1:c.4090A>T
  • NM_001407927.1:c.4090A>T
  • NM_001407928.1:c.4090A>T
  • NM_001407929.1:c.4090A>T
  • NM_001407930.1:c.4087A>T
  • NM_001407931.1:c.4087A>T
  • NM_001407932.1:c.4087A>T
  • NM_001407933.1:c.4087A>T
  • NM_001407934.1:c.4084A>T
  • NM_001407935.1:c.4087A>T
  • NM_001407936.1:c.4087A>T
  • NM_001407937.1:c.4231A>T
  • NM_001407938.1:c.4231A>T
  • NM_001407939.1:c.4231A>T
  • NM_001407940.1:c.4228A>T
  • NM_001407941.1:c.4228A>T
  • NM_001407942.1:c.4213A>T
  • NM_001407943.1:c.4210A>T
  • NM_001407944.1:c.4213A>T
  • NM_001407945.1:c.4213A>T
  • NM_001407946.1:c.4021A>T
  • NM_001407947.1:c.4021A>T
  • NM_001407948.1:c.4021A>T
  • NM_001407949.1:c.4021A>T
  • NM_001407950.1:c.4021A>T
  • NM_001407951.1:c.4021A>T
  • NM_001407952.1:c.4018A>T
  • NM_001407953.1:c.4018A>T
  • NM_001407954.1:c.4018A>T
  • NM_001407955.1:c.4018A>T
  • NM_001407956.1:c.4015A>T
  • NM_001407957.1:c.4018A>T
  • NM_001407958.1:c.4018A>T
  • NM_001407959.1:c.3973A>T
  • NM_001407960.1:c.3973A>T
  • NM_001407962.1:c.3970A>T
  • NM_001407963.1:c.3970A>T
  • NM_001407964.1:c.4210A>T
  • NM_001407965.1:c.3847A>T
  • NM_001407966.1:c.3466A>T
  • NM_001407967.1:c.3466A>T
  • NM_001407968.1:c.1750A>T
  • NM_001407969.1:c.1747A>T
  • NM_001407970.1:c.1045A>T
  • NM_001407971.1:c.1045A>T
  • NM_001407972.1:c.1042A>T
  • NM_001407973.1:c.1045A>T
  • NM_001407974.1:c.1045A>T
  • NM_001407975.1:c.1045A>T
  • NM_001407976.1:c.1045A>T
  • NM_001407977.1:c.1045A>T
  • NM_001407978.1:c.1045A>T
  • NM_001407979.1:c.1042A>T
  • NM_001407980.1:c.1042A>T
  • NM_001407981.1:c.1042A>T
  • NM_001407982.1:c.1042A>T
  • NM_001407983.1:c.1042A>T
  • NM_001407984.1:c.1042A>T
  • NM_001407985.1:c.1042A>T
  • NM_001407986.1:c.1042A>T
  • NM_001407990.1:c.1042A>T
  • NM_001407991.1:c.1042A>T
  • NM_001407992.1:c.1042A>T
  • NM_001407993.1:c.1045A>T
  • NM_001408392.1:c.1042A>T
  • NM_001408396.1:c.1042A>T
  • NM_001408397.1:c.1042A>T
  • NM_001408398.1:c.1042A>T
  • NM_001408399.1:c.1042A>T
  • NM_001408400.1:c.1039A>T
  • NM_001408401.1:c.1039A>T
  • NM_001408402.1:c.1039A>T
  • NM_001408403.1:c.1042A>T
  • NM_001408404.1:c.1042A>T
  • NM_001408406.1:c.1036A>T
  • NM_001408407.1:c.1039A>T
  • NM_001408408.1:c.1036A>T
  • NM_001408409.1:c.967A>T
  • NM_001408410.1:c.904A>T
  • NM_001408411.1:c.967A>T
  • NM_001408412.1:c.967A>T
  • NM_001408413.1:c.964A>T
  • NM_001408414.1:c.967A>T
  • NM_001408415.1:c.967A>T
  • NM_001408416.1:c.964A>T
  • NM_001408418.1:c.928A>T
  • NM_001408419.1:c.928A>T
  • NM_001408420.1:c.928A>T
  • NM_001408421.1:c.925A>T
  • NM_001408422.1:c.928A>T
  • NM_001408423.1:c.928A>T
  • NM_001408424.1:c.925A>T
  • NM_001408425.1:c.922A>T
  • NM_001408426.1:c.922A>T
  • NM_001408427.1:c.922A>T
  • NM_001408428.1:c.922A>T
  • NM_001408429.1:c.922A>T
  • NM_001408430.1:c.922A>T
  • NM_001408431.1:c.925A>T
  • NM_001408432.1:c.919A>T
  • NM_001408433.1:c.919A>T
  • NM_001408434.1:c.919A>T
  • NM_001408435.1:c.919A>T
  • NM_001408436.1:c.922A>T
  • NM_001408437.1:c.922A>T
  • NM_001408438.1:c.922A>T
  • NM_001408439.1:c.922A>T
  • NM_001408440.1:c.922A>T
  • NM_001408441.1:c.919A>T
  • NM_001408442.1:c.919A>T
  • NM_001408443.1:c.919A>T
  • NM_001408444.1:c.919A>T
  • NM_001408445.1:c.919A>T
  • NM_001408446.1:c.919A>T
  • NM_001408447.1:c.919A>T
  • NM_001408448.1:c.919A>T
  • NM_001408450.1:c.919A>T
  • NM_001408451.1:c.910A>T
  • NM_001408452.1:c.904A>T
  • NM_001408453.1:c.904A>T
  • NM_001408454.1:c.904A>T
  • NM_001408455.1:c.904A>T
  • NM_001408456.1:c.904A>T
  • NM_001408457.1:c.904A>T
  • NM_001408458.1:c.904A>T
  • NM_001408459.1:c.904A>T
  • NM_001408460.1:c.904A>T
  • NM_001408461.1:c.904A>T
  • NM_001408462.1:c.901A>T
  • NM_001408463.1:c.901A>T
  • NM_001408464.1:c.901A>T
  • NM_001408465.1:c.901A>T
  • NM_001408466.1:c.901A>T
  • NM_001408467.1:c.901A>T
  • NM_001408468.1:c.901A>T
  • NM_001408469.1:c.901A>T
  • NM_001408470.1:c.898A>T
  • NM_001408472.1:c.1042A>T
  • NM_001408473.1:c.1042A>T
  • NM_001408474.1:c.844A>T
  • NM_001408475.1:c.841A>T
  • NM_001408476.1:c.844A>T
  • NM_001408478.1:c.835A>T
  • NM_001408479.1:c.835A>T
  • NM_001408480.1:c.835A>T
  • NM_001408481.1:c.835A>T
  • NM_001408482.1:c.835A>T
  • NM_001408483.1:c.835A>T
  • NM_001408484.1:c.835A>T
  • NM_001408485.1:c.835A>T
  • NM_001408489.1:c.832A>T
  • NM_001408490.1:c.832A>T
  • NM_001408491.1:c.832A>T
  • NM_001408492.1:c.832A>T
  • NM_001408493.1:c.832A>T
  • NM_001408494.1:c.805A>T
  • NM_001408495.1:c.802A>T
  • NM_001408496.1:c.781A>T
  • NM_001408497.1:c.781A>T
  • NM_001408498.1:c.781A>T
  • NM_001408499.1:c.781A>T
  • NM_001408500.1:c.781A>T
  • NM_001408501.1:c.781A>T
  • NM_001408502.1:c.712A>T
  • NM_001408503.1:c.778A>T
  • NM_001408504.1:c.778A>T
  • NM_001408505.1:c.778A>T
  • NM_001408506.1:c.718A>T
  • NM_001408507.1:c.715A>T
  • NM_001408508.1:c.706A>T
  • NM_001408509.1:c.706A>T
  • NM_001408510.1:c.664A>T
  • NM_001408511.1:c.661A>T
  • NM_001408512.1:c.541A>T
  • NM_001408513.1:c.832A>T
  • NM_001408514.1:c.835A>T
  • NM_007294.4:c.4354A>TMANE SELECT
  • NM_007297.4:c.4213A>T
  • NM_007298.4:c.1045A>T
  • NM_007299.4:c.1045A>T
  • NM_007300.4:c.4354A>T
  • NM_007304.2:c.1045A>T
  • NP_001394500.1:p.Lys1381Ter
  • NP_001394510.1:p.Lys1452Ter
  • NP_001394511.1:p.Lys1452Ter
  • NP_001394512.1:p.Lys1452Ter
  • NP_001394514.1:p.Lys1452Ter
  • NP_001394516.1:p.Lys1451Ter
  • NP_001394519.1:p.Lys1451Ter
  • NP_001394520.1:p.Lys1451Ter
  • NP_001394522.1:p.Lys1452Ter
  • NP_001394523.1:p.Lys1452Ter
  • NP_001394525.1:p.Lys1452Ter
  • NP_001394526.1:p.Lys1452Ter
  • NP_001394527.1:p.Lys1452Ter
  • NP_001394531.1:p.Lys1452Ter
  • NP_001394532.1:p.Lys1452Ter
  • NP_001394534.1:p.Lys1452Ter
  • NP_001394539.1:p.Lys1451Ter
  • NP_001394540.1:p.Lys1451Ter
  • NP_001394541.1:p.Lys1451Ter
  • NP_001394542.1:p.Lys1451Ter
  • NP_001394543.1:p.Lys1451Ter
  • NP_001394544.1:p.Lys1451Ter
  • NP_001394545.1:p.Lys1452Ter
  • NP_001394546.1:p.Lys1452Ter
  • NP_001394547.1:p.Lys1452Ter
  • NP_001394548.1:p.Lys1452Ter
  • NP_001394549.1:p.Lys1452Ter
  • NP_001394550.1:p.Lys1452Ter
  • NP_001394551.1:p.Lys1452Ter
  • NP_001394552.1:p.Lys1452Ter
  • NP_001394553.1:p.Lys1451Ter
  • NP_001394554.1:p.Lys1451Ter
  • NP_001394555.1:p.Lys1451Ter
  • NP_001394556.1:p.Lys1450Ter
  • NP_001394557.1:p.Lys1450Ter
  • NP_001394558.1:p.Lys1450Ter
  • NP_001394559.1:p.Lys1450Ter
  • NP_001394560.1:p.Lys1450Ter
  • NP_001394561.1:p.Lys1450Ter
  • NP_001394562.1:p.Lys1451Ter
  • NP_001394563.1:p.Lys1451Ter
  • NP_001394564.1:p.Lys1451Ter
  • NP_001394565.1:p.Lys1451Ter
  • NP_001394566.1:p.Lys1451Ter
  • NP_001394567.1:p.Lys1451Ter
  • NP_001394568.1:p.Lys1451Ter
  • NP_001394569.1:p.Lys1451Ter
  • NP_001394570.1:p.Lys1451Ter
  • NP_001394571.1:p.Lys1451Ter
  • NP_001394573.1:p.Lys1450Ter
  • NP_001394574.1:p.Lys1450Ter
  • NP_001394575.1:p.Lys1448Ter
  • NP_001394576.1:p.Lys1448Ter
  • NP_001394577.1:p.Lys1411Ter
  • NP_001394578.1:p.Lys1410Ter
  • NP_001394581.1:p.Lys1452Ter
  • NP_001394582.1:p.Lys1426Ter
  • NP_001394583.1:p.Lys1426Ter
  • NP_001394584.1:p.Lys1426Ter
  • NP_001394585.1:p.Lys1425Ter
  • NP_001394586.1:p.Lys1426Ter
  • NP_001394587.1:p.Lys1426Ter
  • NP_001394588.1:p.Lys1424Ter
  • NP_001394589.1:p.Lys1424Ter
  • NP_001394590.1:p.Lys1425Ter
  • NP_001394591.1:p.Lys1425Ter
  • NP_001394592.1:p.Lys1425Ter
  • NP_001394593.1:p.Lys1411Ter
  • NP_001394594.1:p.Lys1411Ter
  • NP_001394595.1:p.Lys1411Ter
  • NP_001394596.1:p.Lys1411Ter
  • NP_001394597.1:p.Lys1411Ter
  • NP_001394598.1:p.Lys1411Ter
  • NP_001394599.1:p.Lys1410Ter
  • NP_001394600.1:p.Lys1410Ter
  • NP_001394601.1:p.Lys1410Ter
  • NP_001394602.1:p.Lys1410Ter
  • NP_001394603.1:p.Lys1410Ter
  • NP_001394604.1:p.Lys1410Ter
  • NP_001394605.1:p.Lys1410Ter
  • NP_001394606.1:p.Lys1411Ter
  • NP_001394607.1:p.Lys1411Ter
  • NP_001394608.1:p.Lys1411Ter
  • NP_001394609.1:p.Lys1411Ter
  • NP_001394610.1:p.Lys1410Ter
  • NP_001394611.1:p.Lys1410Ter
  • NP_001394612.1:p.Lys1410Ter
  • NP_001394613.1:p.Lys1452Ter
  • NP_001394614.1:p.Lys1409Ter
  • NP_001394615.1:p.Lys1409Ter
  • NP_001394616.1:p.Lys1409Ter
  • NP_001394617.1:p.Lys1410Ter
  • NP_001394618.1:p.Lys1410Ter
  • NP_001394619.1:p.Lys1409Ter
  • NP_001394620.1:p.Lys1409Ter
  • NP_001394621.1:p.Lys1405Ter
  • NP_001394623.1:p.Lys1405Ter
  • NP_001394624.1:p.Lys1405Ter
  • NP_001394625.1:p.Lys1405Ter
  • NP_001394626.1:p.Lys1405Ter
  • NP_001394627.1:p.Lys1405Ter
  • NP_001394653.1:p.Lys1405Ter
  • NP_001394654.1:p.Lys1405Ter
  • NP_001394655.1:p.Lys1405Ter
  • NP_001394656.1:p.Lys1405Ter
  • NP_001394657.1:p.Lys1405Ter
  • NP_001394658.1:p.Lys1405Ter
  • NP_001394659.1:p.Lys1405Ter
  • NP_001394660.1:p.Lys1405Ter
  • NP_001394661.1:p.Lys1405Ter
  • NP_001394662.1:p.Lys1405Ter
  • NP_001394663.1:p.Lys1405Ter
  • NP_001394664.1:p.Lys1405Ter
  • NP_001394665.1:p.Lys1405Ter
  • NP_001394666.1:p.Lys1405Ter
  • NP_001394667.1:p.Lys1405Ter
  • NP_001394668.1:p.Lys1405Ter
  • NP_001394669.1:p.Lys1404Ter
  • NP_001394670.1:p.Lys1404Ter
  • NP_001394671.1:p.Lys1404Ter
  • NP_001394672.1:p.Lys1404Ter
  • NP_001394673.1:p.Lys1404Ter
  • NP_001394674.1:p.Lys1404Ter
  • NP_001394675.1:p.Lys1404Ter
  • NP_001394676.1:p.Lys1404Ter
  • NP_001394677.1:p.Lys1404Ter
  • NP_001394678.1:p.Lys1404Ter
  • NP_001394679.1:p.Lys1404Ter
  • NP_001394680.1:p.Lys1404Ter
  • NP_001394681.1:p.Lys1404Ter
  • NP_001394767.1:p.Lys1404Ter
  • NP_001394768.1:p.Lys1404Ter
  • NP_001394770.1:p.Lys1404Ter
  • NP_001394771.1:p.Lys1404Ter
  • NP_001394772.1:p.Lys1404Ter
  • NP_001394773.1:p.Lys1404Ter
  • NP_001394774.1:p.Lys1404Ter
  • NP_001394775.1:p.Lys1404Ter
  • NP_001394776.1:p.Lys1403Ter
  • NP_001394777.1:p.Lys1403Ter
  • NP_001394778.1:p.Lys1403Ter
  • NP_001394779.1:p.Lys1404Ter
  • NP_001394780.1:p.Lys1404Ter
  • NP_001394781.1:p.Lys1404Ter
  • NP_001394782.1:p.Lys1381Ter
  • NP_001394783.1:p.Lys1452Ter
  • NP_001394787.1:p.Lys1452Ter
  • NP_001394788.1:p.Lys1452Ter
  • NP_001394789.1:p.Lys1451Ter
  • NP_001394790.1:p.Lys1451Ter
  • NP_001394791.1:p.Lys1385Ter
  • NP_001394792.1:p.Lys1411Ter
  • NP_001394803.1:p.Lys1384Ter
  • NP_001394804.1:p.Lys1384Ter
  • NP_001394808.1:p.Lys1382Ter
  • NP_001394810.1:p.Lys1382Ter
  • NP_001394811.1:p.Lys1382Ter
  • NP_001394813.1:p.Lys1382Ter
  • NP_001394814.1:p.Lys1382Ter
  • NP_001394815.1:p.Lys1382Ter
  • NP_001394816.1:p.Lys1382Ter
  • NP_001394818.1:p.Lys1382Ter
  • NP_001394823.1:p.Lys1381Ter
  • NP_001394824.1:p.Lys1381Ter
  • NP_001394825.1:p.Lys1381Ter
  • NP_001394826.1:p.Lys1381Ter
  • NP_001394827.1:p.Lys1381Ter
  • NP_001394828.1:p.Lys1381Ter
  • NP_001394829.1:p.Lys1382Ter
  • NP_001394831.1:p.Lys1382Ter
  • NP_001394833.1:p.Lys1382Ter
  • NP_001394835.1:p.Lys1382Ter
  • NP_001394836.1:p.Lys1381Ter
  • NP_001394837.1:p.Lys1381Ter
  • NP_001394838.1:p.Lys1381Ter
  • NP_001394839.1:p.Lys1381Ter
  • NP_001394844.1:p.Lys1380Ter
  • NP_001394845.1:p.Lys1381Ter
  • NP_001394846.1:p.Lys1381Ter
  • NP_001394847.1:p.Lys1381Ter
  • NP_001394848.1:p.Lys1411Ter
  • NP_001394849.1:p.Lys1364Ter
  • NP_001394850.1:p.Lys1364Ter
  • NP_001394851.1:p.Lys1364Ter
  • NP_001394852.1:p.Lys1364Ter
  • NP_001394853.1:p.Lys1364Ter
  • NP_001394854.1:p.Lys1364Ter
  • NP_001394855.1:p.Lys1364Ter
  • NP_001394856.1:p.Lys1364Ter
  • NP_001394857.1:p.Lys1364Ter
  • NP_001394858.1:p.Lys1364Ter
  • NP_001394859.1:p.Lys1363Ter
  • NP_001394860.1:p.Lys1363Ter
  • NP_001394861.1:p.Lys1363Ter
  • NP_001394862.1:p.Lys1363Ter
  • NP_001394863.1:p.Lys1362Ter
  • NP_001394864.1:p.Lys1363Ter
  • NP_001394865.1:p.Lys1363Ter
  • NP_001394866.1:p.Lys1411Ter
  • NP_001394867.1:p.Lys1411Ter
  • NP_001394868.1:p.Lys1411Ter
  • NP_001394869.1:p.Lys1410Ter
  • NP_001394870.1:p.Lys1410Ter
  • NP_001394871.1:p.Lys1405Ter
  • NP_001394872.1:p.Lys1404Ter
  • NP_001394873.1:p.Lys1405Ter
  • NP_001394874.1:p.Lys1405Ter
  • NP_001394875.1:p.Lys1341Ter
  • NP_001394876.1:p.Lys1341Ter
  • NP_001394877.1:p.Lys1341Ter
  • NP_001394878.1:p.Lys1341Ter
  • NP_001394879.1:p.Lys1341Ter
  • NP_001394880.1:p.Lys1341Ter
  • NP_001394881.1:p.Lys1340Ter
  • NP_001394882.1:p.Lys1340Ter
  • NP_001394883.1:p.Lys1340Ter
  • NP_001394884.1:p.Lys1340Ter
  • NP_001394885.1:p.Lys1339Ter
  • NP_001394886.1:p.Lys1340Ter
  • NP_001394887.1:p.Lys1340Ter
  • NP_001394888.1:p.Lys1325Ter
  • NP_001394889.1:p.Lys1325Ter
  • NP_001394891.1:p.Lys1324Ter
  • NP_001394892.1:p.Lys1324Ter
  • NP_001394893.1:p.Lys1404Ter
  • NP_001394894.1:p.Lys1283Ter
  • NP_001394895.1:p.Lys1156Ter
  • NP_001394896.1:p.Lys1156Ter
  • NP_001394897.1:p.Lys584Ter
  • NP_001394898.1:p.Lys583Ter
  • NP_001394899.1:p.Lys349Ter
  • NP_001394900.1:p.Lys349Ter
  • NP_001394901.1:p.Lys348Ter
  • NP_001394902.1:p.Lys349Ter
  • NP_001394903.1:p.Lys349Ter
  • NP_001394904.1:p.Lys349Ter
  • NP_001394905.1:p.Lys349Ter
  • NP_001394906.1:p.Lys349Ter
  • NP_001394907.1:p.Lys349Ter
  • NP_001394908.1:p.Lys348Ter
  • NP_001394909.1:p.Lys348Ter
  • NP_001394910.1:p.Lys348Ter
  • NP_001394911.1:p.Lys348Ter
  • NP_001394912.1:p.Lys348Ter
  • NP_001394913.1:p.Lys348Ter
  • NP_001394914.1:p.Lys348Ter
  • NP_001394915.1:p.Lys348Ter
  • NP_001394919.1:p.Lys348Ter
  • NP_001394920.1:p.Lys348Ter
  • NP_001394921.1:p.Lys348Ter
  • NP_001394922.1:p.Lys349Ter
  • NP_001395321.1:p.Lys348Ter
  • NP_001395325.1:p.Lys348Ter
  • NP_001395326.1:p.Lys348Ter
  • NP_001395327.1:p.Lys348Ter
  • NP_001395328.1:p.Lys348Ter
  • NP_001395329.1:p.Lys347Ter
  • NP_001395330.1:p.Lys347Ter
  • NP_001395331.1:p.Lys347Ter
  • NP_001395332.1:p.Lys348Ter
  • NP_001395333.1:p.Lys348Ter
  • NP_001395335.1:p.Lys346Ter
  • NP_001395336.1:p.Lys347Ter
  • NP_001395337.1:p.Lys346Ter
  • NP_001395338.1:p.Lys323Ter
  • NP_001395339.1:p.Lys302Ter
  • NP_001395340.1:p.Lys323Ter
  • NP_001395341.1:p.Lys323Ter
  • NP_001395342.1:p.Lys322Ter
  • NP_001395343.1:p.Lys323Ter
  • NP_001395344.1:p.Lys323Ter
  • NP_001395345.1:p.Lys322Ter
  • NP_001395347.1:p.Lys310Ter
  • NP_001395348.1:p.Lys310Ter
  • NP_001395349.1:p.Lys310Ter
  • NP_001395350.1:p.Lys309Ter
  • NP_001395351.1:p.Lys310Ter
  • NP_001395352.1:p.Lys310Ter
  • NP_001395353.1:p.Lys309Ter
  • NP_001395354.1:p.Lys308Ter
  • NP_001395355.1:p.Lys308Ter
  • NP_001395356.1:p.Lys308Ter
  • NP_001395357.1:p.Lys308Ter
  • NP_001395358.1:p.Lys308Ter
  • NP_001395359.1:p.Lys308Ter
  • NP_001395360.1:p.Lys309Ter
  • NP_001395361.1:p.Lys307Ter
  • NP_001395362.1:p.Lys307Ter
  • NP_001395363.1:p.Lys307Ter
  • NP_001395364.1:p.Lys307Ter
  • NP_001395365.1:p.Lys308Ter
  • NP_001395366.1:p.Lys308Ter
  • NP_001395367.1:p.Lys308Ter
  • NP_001395368.1:p.Lys308Ter
  • NP_001395369.1:p.Lys308Ter
  • NP_001395370.1:p.Lys307Ter
  • NP_001395371.1:p.Lys307Ter
  • NP_001395372.1:p.Lys307Ter
  • NP_001395373.1:p.Lys307Ter
  • NP_001395374.1:p.Lys307Ter
  • NP_001395375.1:p.Lys307Ter
  • NP_001395376.1:p.Lys307Ter
  • NP_001395377.1:p.Lys307Ter
  • NP_001395379.1:p.Lys307Ter
  • NP_001395380.1:p.Lys304Ter
  • NP_001395381.1:p.Lys302Ter
  • NP_001395382.1:p.Lys302Ter
  • NP_001395383.1:p.Lys302Ter
  • NP_001395384.1:p.Lys302Ter
  • NP_001395385.1:p.Lys302Ter
  • NP_001395386.1:p.Lys302Ter
  • NP_001395387.1:p.Lys302Ter
  • NP_001395388.1:p.Lys302Ter
  • NP_001395389.1:p.Lys302Ter
  • NP_001395390.1:p.Lys302Ter
  • NP_001395391.1:p.Lys301Ter
  • NP_001395392.1:p.Lys301Ter
  • NP_001395393.1:p.Lys301Ter
  • NP_001395394.1:p.Lys301Ter
  • NP_001395395.1:p.Lys301Ter
  • NP_001395396.1:p.Lys301Ter
  • NP_001395397.1:p.Lys301Ter
  • NP_001395398.1:p.Lys301Ter
  • NP_001395399.1:p.Lys300Ter
  • NP_001395401.1:p.Lys348Ter
  • NP_001395402.1:p.Lys348Ter
  • NP_001395403.1:p.Lys282Ter
  • NP_001395404.1:p.Lys281Ter
  • NP_001395405.1:p.Lys282Ter
  • NP_001395407.1:p.Lys279Ter
  • NP_001395408.1:p.Lys279Ter
  • NP_001395409.1:p.Lys279Ter
  • NP_001395410.1:p.Lys279Ter
  • NP_001395411.1:p.Lys279Ter
  • NP_001395412.1:p.Lys279Ter
  • NP_001395413.1:p.Lys279Ter
  • NP_001395414.1:p.Lys279Ter
  • NP_001395418.1:p.Lys278Ter
  • NP_001395419.1:p.Lys278Ter
  • NP_001395420.1:p.Lys278Ter
  • NP_001395421.1:p.Lys278Ter
  • NP_001395422.1:p.Lys278Ter
  • NP_001395423.1:p.Lys269Ter
  • NP_001395424.1:p.Lys268Ter
  • NP_001395425.1:p.Lys261Ter
  • NP_001395426.1:p.Lys261Ter
  • NP_001395427.1:p.Lys261Ter
  • NP_001395428.1:p.Lys261Ter
  • NP_001395429.1:p.Lys261Ter
  • NP_001395430.1:p.Lys261Ter
  • NP_001395431.1:p.Lys238Ter
  • NP_001395432.1:p.Lys260Ter
  • NP_001395433.1:p.Lys260Ter
  • NP_001395434.1:p.Lys260Ter
  • NP_001395435.1:p.Lys240Ter
  • NP_001395436.1:p.Lys239Ter
  • NP_001395437.1:p.Lys236Ter
  • NP_001395438.1:p.Lys236Ter
  • NP_001395439.1:p.Lys222Ter
  • NP_001395440.1:p.Lys221Ter
  • NP_001395441.1:p.Lys181Ter
  • NP_001395442.1:p.Lys278Ter
  • NP_001395443.1:p.Lys279Ter
  • NP_009225.1:p.Lys1452Ter
  • NP_009225.1:p.Lys1452Ter
  • NP_009228.2:p.Lys1405Ter
  • NP_009229.2:p.Lys349Ter
  • NP_009229.2:p.Lys349Ter
  • NP_009230.2:p.Lys349Ter
  • NP_009231.2:p.Lys1452Ter
  • NP_009235.2:p.Lys349Ter
  • LRG_292t1:c.4354A>T
  • LRG_292:g.135577A>T
  • LRG_292p1:p.Lys1452Ter
  • NC_000017.10:g.41234424T>A
  • NM_007294.3:c.4354A>T
  • NM_007298.3:c.1045A>T
  • NR_027676.2:n.4531A>T
Nucleotide change:
4473A>T
Protein change:
K1156*
Links:
dbSNP: rs398122685
NCBI 1000 Genomes Browser:
rs398122685
Molecular consequence:
  • NR_027676.2:n.4531A>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NM_001407571.1:c.4141A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407581.1:c.4354A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407582.1:c.4354A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407583.1:c.4354A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407585.1:c.4354A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407587.1:c.4351A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407590.1:c.4351A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407591.1:c.4351A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407593.1:c.4354A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407594.1:c.4354A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407596.1:c.4354A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407597.1:c.4354A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407598.1:c.4354A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407602.1:c.4354A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407603.1:c.4354A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407605.1:c.4354A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407610.1:c.4351A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407611.1:c.4351A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407612.1:c.4351A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407613.1:c.4351A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407614.1:c.4351A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407615.1:c.4351A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407616.1:c.4354A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407617.1:c.4354A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407618.1:c.4354A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407619.1:c.4354A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407620.1:c.4354A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407621.1:c.4354A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407622.1:c.4354A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407623.1:c.4354A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407624.1:c.4351A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407625.1:c.4351A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407626.1:c.4351A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407627.1:c.4348A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407628.1:c.4348A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407629.1:c.4348A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407630.1:c.4348A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407631.1:c.4348A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407632.1:c.4348A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407633.1:c.4351A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407634.1:c.4351A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407635.1:c.4351A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407636.1:c.4351A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407637.1:c.4351A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407638.1:c.4351A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407639.1:c.4351A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407640.1:c.4351A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407641.1:c.4351A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407642.1:c.4351A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407644.1:c.4348A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407645.1:c.4348A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407646.1:c.4342A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407647.1:c.4342A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407648.1:c.4231A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407649.1:c.4228A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407652.1:c.4354A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407653.1:c.4276A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407654.1:c.4276A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407655.1:c.4276A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407656.1:c.4273A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407657.1:c.4276A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407658.1:c.4276A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407659.1:c.4270A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407660.1:c.4270A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407661.1:c.4273A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407662.1:c.4273A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407663.1:c.4273A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407664.1:c.4231A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407665.1:c.4231A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407666.1:c.4231A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407667.1:c.4231A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407668.1:c.4231A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407669.1:c.4231A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407670.1:c.4228A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407671.1:c.4228A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407672.1:c.4228A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407673.1:c.4228A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407674.1:c.4228A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407675.1:c.4228A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407676.1:c.4228A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407677.1:c.4231A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407678.1:c.4231A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407679.1:c.4231A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407680.1:c.4231A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407681.1:c.4228A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407682.1:c.4228A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407683.1:c.4228A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407684.1:c.4354A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407685.1:c.4225A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407686.1:c.4225A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407687.1:c.4225A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407688.1:c.4228A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407689.1:c.4228A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407690.1:c.4225A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407691.1:c.4225A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407692.1:c.4213A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407694.1:c.4213A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407695.1:c.4213A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407696.1:c.4213A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407697.1:c.4213A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407698.1:c.4213A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407724.1:c.4213A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407725.1:c.4213A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407726.1:c.4213A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407727.1:c.4213A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407728.1:c.4213A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407729.1:c.4213A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407730.1:c.4213A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407731.1:c.4213A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407732.1:c.4213A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407733.1:c.4213A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407734.1:c.4213A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407735.1:c.4213A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407736.1:c.4213A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407737.1:c.4213A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407738.1:c.4213A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407739.1:c.4213A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407740.1:c.4210A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407741.1:c.4210A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407742.1:c.4210A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407743.1:c.4210A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407744.1:c.4210A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407745.1:c.4210A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407746.1:c.4210A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407747.1:c.4210A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407748.1:c.4210A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407749.1:c.4210A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407750.1:c.4210A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407751.1:c.4210A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407752.1:c.4210A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407838.1:c.4210A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407839.1:c.4210A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407841.1:c.4210A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407842.1:c.4210A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407843.1:c.4210A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407844.1:c.4210A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407845.1:c.4210A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407846.1:c.4210A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407847.1:c.4207A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407848.1:c.4207A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407849.1:c.4207A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407850.1:c.4210A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407851.1:c.4210A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407852.1:c.4210A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407853.1:c.4141A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407854.1:c.4354A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407858.1:c.4354A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407859.1:c.4354A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407860.1:c.4351A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407861.1:c.4351A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407862.1:c.4153A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407863.1:c.4231A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407874.1:c.4150A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407875.1:c.4150A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407879.1:c.4144A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407881.1:c.4144A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407882.1:c.4144A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407884.1:c.4144A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407885.1:c.4144A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407886.1:c.4144A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407887.1:c.4144A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407889.1:c.4144A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407894.1:c.4141A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407895.1:c.4141A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407896.1:c.4141A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407897.1:c.4141A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407898.1:c.4141A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407899.1:c.4141A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407900.1:c.4144A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407902.1:c.4144A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407904.1:c.4144A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407906.1:c.4144A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407907.1:c.4141A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407908.1:c.4141A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407909.1:c.4141A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407910.1:c.4141A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407915.1:c.4138A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407916.1:c.4141A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407917.1:c.4141A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407918.1:c.4141A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407919.1:c.4231A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407920.1:c.4090A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407921.1:c.4090A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407922.1:c.4090A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407923.1:c.4090A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407924.1:c.4090A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407925.1:c.4090A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407926.1:c.4090A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407927.1:c.4090A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407928.1:c.4090A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407929.1:c.4090A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407930.1:c.4087A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407931.1:c.4087A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407932.1:c.4087A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407933.1:c.4087A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407934.1:c.4084A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407935.1:c.4087A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407936.1:c.4087A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407937.1:c.4231A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407938.1:c.4231A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407939.1:c.4231A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407940.1:c.4228A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407941.1:c.4228A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407942.1:c.4213A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407943.1:c.4210A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407944.1:c.4213A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407945.1:c.4213A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407946.1:c.4021A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407947.1:c.4021A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407948.1:c.4021A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407949.1:c.4021A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407950.1:c.4021A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407951.1:c.4021A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407952.1:c.4018A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407953.1:c.4018A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407954.1:c.4018A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407955.1:c.4018A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407956.1:c.4015A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407957.1:c.4018A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407958.1:c.4018A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407959.1:c.3973A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407960.1:c.3973A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407962.1:c.3970A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407963.1:c.3970A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407964.1:c.4210A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407965.1:c.3847A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407966.1:c.3466A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407967.1:c.3466A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407968.1:c.1750A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407969.1:c.1747A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407970.1:c.1045A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407971.1:c.1045A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407972.1:c.1042A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407973.1:c.1045A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407974.1:c.1045A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407975.1:c.1045A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407976.1:c.1045A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407977.1:c.1045A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407978.1:c.1045A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407979.1:c.1042A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407980.1:c.1042A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407981.1:c.1042A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407982.1:c.1042A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407983.1:c.1042A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407984.1:c.1042A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407985.1:c.1042A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407986.1:c.1042A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407990.1:c.1042A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407991.1:c.1042A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407992.1:c.1042A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407993.1:c.1045A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408392.1:c.1042A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408396.1:c.1042A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408397.1:c.1042A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408398.1:c.1042A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408399.1:c.1042A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408400.1:c.1039A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408401.1:c.1039A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408402.1:c.1039A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408403.1:c.1042A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408404.1:c.1042A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408406.1:c.1036A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408407.1:c.1039A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408408.1:c.1036A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408409.1:c.967A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408410.1:c.904A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408411.1:c.967A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408412.1:c.967A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408413.1:c.964A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408414.1:c.967A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408415.1:c.967A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408416.1:c.964A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408418.1:c.928A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408419.1:c.928A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408420.1:c.928A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408421.1:c.925A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408422.1:c.928A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408423.1:c.928A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408424.1:c.925A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408425.1:c.922A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408426.1:c.922A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408427.1:c.922A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408428.1:c.922A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408429.1:c.922A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408430.1:c.922A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408431.1:c.925A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408432.1:c.919A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408433.1:c.919A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408434.1:c.919A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408435.1:c.919A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408436.1:c.922A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408437.1:c.922A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408438.1:c.922A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408439.1:c.922A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408440.1:c.922A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408441.1:c.919A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408442.1:c.919A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408443.1:c.919A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408444.1:c.919A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408445.1:c.919A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408446.1:c.919A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408447.1:c.919A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408448.1:c.919A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408450.1:c.919A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408451.1:c.910A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408452.1:c.904A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408453.1:c.904A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408454.1:c.904A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408455.1:c.904A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408456.1:c.904A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408457.1:c.904A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408458.1:c.904A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408459.1:c.904A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408460.1:c.904A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408461.1:c.904A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408462.1:c.901A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408463.1:c.901A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408464.1:c.901A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408465.1:c.901A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408466.1:c.901A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408467.1:c.901A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408468.1:c.901A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408469.1:c.901A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408470.1:c.898A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408472.1:c.1042A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408473.1:c.1042A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408474.1:c.844A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408475.1:c.841A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408476.1:c.844A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408478.1:c.835A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408479.1:c.835A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408480.1:c.835A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408481.1:c.835A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408482.1:c.835A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408483.1:c.835A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408484.1:c.835A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408485.1:c.835A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408489.1:c.832A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408490.1:c.832A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408491.1:c.832A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408492.1:c.832A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408493.1:c.832A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408494.1:c.805A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408495.1:c.802A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408496.1:c.781A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408497.1:c.781A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408498.1:c.781A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408499.1:c.781A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408500.1:c.781A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408501.1:c.781A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408502.1:c.712A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408503.1:c.778A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408504.1:c.778A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408505.1:c.778A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408506.1:c.718A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408507.1:c.715A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408508.1:c.706A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408509.1:c.706A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408510.1:c.664A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408511.1:c.661A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408512.1:c.541A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408513.1:c.832A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001408514.1:c.835A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_007294.4:c.4354A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_007297.4:c.4213A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_007298.4:c.1045A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_007299.4:c.1045A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_007300.4:c.4354A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_007304.2:c.1045A>T - nonsense - [Sequence Ontology: SO:0001587]

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
SCV002627927Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Pathogenic
(Nov 26, 2019) 		germlineclinical testing

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

Citation Link

Help

Summary from all submissions

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

Citations

PubMed

Germline BRCA mutation and outcome in young-onset breast cancer (POSH): a prospective cohort study.

Copson ER, Maishman TC, Tapper WJ, Cutress RI, Greville-Heygate S, Altman DG, Eccles B, Gerty S, Durcan LT, Jones L, Evans DG, Thompson AM, Pharoah P, Easton DF, Dunning AM, Hanby A, Lakhani S, Eeles R, Gilbert FJ, Hamed H, Hodgson S, Simmonds P, et al.

Lancet Oncol. 2018 Feb;19(2):169-180. doi: 10.1016/S1470-2045(17)30891-4. Epub 2018 Jan 11.

PubMed [citation]
PMID:
29337092
PMCID:
PMC5805863

Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations.

Rebbeck TR, Friebel TM, Friedman E, Hamann U, Huo D, Kwong A, Olah E, Olopade OI, Solano AR, Teo SH, Thomassen M, Weitzel JN, Chan TL, Couch FJ, Goldgar DE, Kruse TA, Palmero EI, Park SK, Torres D, van Rensburg EJ, McGuffog L, Parsons MT, et al.

Hum Mutat. 2018 May;39(5):593-620. doi: 10.1002/humu.23406. Epub 2018 Mar 12.

PubMed [citation]
PMID:
29446198
PMCID:
PMC5903938

Details of each submission

From Ambry Genetics, SCV002627927.2

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

Description

The p.K1452* pathogenic mutation (also known as c.4354A>T), located in coding exon 11 of the BRCA1 gene, results from an A to T substitution at nucleotide position 4354. This changes the amino acid from a lysine to a stop codon within coding exon 11. This variant has been identified in multiple families diagnosed with breast and/or ovarian cancer (Rebbeck TR et al. Hum. Mutat. 2018 05;39:593-620; Copson ER et al. Lancet Oncol. 2018 02;19:169-180). In addition to the clinical data presented in the literature, this alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.

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

Last Updated: Oct 8, 2024