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NM_007294.4(BRCA1):c.406del (p.Arg136fs) AND Hereditary cancer-predisposing syndrome

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Dec 12, 2022
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:
RCV003165706.9

Allele description [Variation Report for NM_007294.4(BRCA1):c.406del (p.Arg136fs)]

NM_007294.4(BRCA1):c.406del (p.Arg136fs)

Gene:
BRCA1:BRCA1 DNA repair associated [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
17q21.31
Genomic location:
Preferred name:
NM_007294.4(BRCA1):c.406del (p.Arg136fs)
Other names:
525delA
HGVS:
  • NC_000017.11:g.43104160del
  • NG_005905.2:g.113827del
  • NM_001407571.1:c.193delA
  • NM_001407581.1:c.403delA
  • NM_001407582.1:c.403delA
  • NM_001407583.1:c.403delA
  • NM_001407585.1:c.403delA
  • NM_001407587.1:c.403delA
  • NM_001407590.1:c.403delA
  • NM_001407591.1:c.403delA
  • NM_001407593.1:c.403delA
  • NM_001407594.1:c.403delA
  • NM_001407596.1:c.403delA
  • NM_001407597.1:c.403delA
  • NM_001407598.1:c.403delA
  • NM_001407602.1:c.403delA
  • NM_001407603.1:c.403delA
  • NM_001407605.1:c.403delA
  • NM_001407610.1:c.403delA
  • NM_001407611.1:c.403delA
  • NM_001407612.1:c.403delA
  • NM_001407613.1:c.403delA
  • NM_001407614.1:c.403delA
  • NM_001407615.1:c.403delA
  • NM_001407616.1:c.403delA
  • NM_001407617.1:c.403delA
  • NM_001407618.1:c.403delA
  • NM_001407619.1:c.403delA
  • NM_001407620.1:c.403delA
  • NM_001407621.1:c.403delA
  • NM_001407622.1:c.403delA
  • NM_001407623.1:c.403delA
  • NM_001407624.1:c.403delA
  • NM_001407625.1:c.403delA
  • NM_001407626.1:c.403delA
  • NM_001407627.1:c.403delA
  • NM_001407628.1:c.403delA
  • NM_001407629.1:c.403delA
  • NM_001407630.1:c.403delA
  • NM_001407631.1:c.403delA
  • NM_001407632.1:c.403delA
  • NM_001407633.1:c.403delA
  • NM_001407634.1:c.403delA
  • NM_001407635.1:c.403delA
  • NM_001407636.1:c.403delA
  • NM_001407637.1:c.403delA
  • NM_001407638.1:c.403delA
  • NM_001407639.1:c.403delA
  • NM_001407640.1:c.403delA
  • NM_001407641.1:c.403delA
  • NM_001407642.1:c.403delA
  • NM_001407644.1:c.403delA
  • NM_001407645.1:c.403delA
  • NM_001407646.1:c.394delA
  • NM_001407647.1:c.394delA
  • NM_001407648.1:c.403delA
  • NM_001407649.1:c.403delA
  • NM_001407652.1:c.403delA
  • NM_001407653.1:c.325delA
  • NM_001407654.1:c.325delA
  • NM_001407655.1:c.325delA
  • NM_001407656.1:c.325delA
  • NM_001407657.1:c.325delA
  • NM_001407658.1:c.325delA
  • NM_001407659.1:c.325delA
  • NM_001407660.1:c.325delA
  • NM_001407661.1:c.325delA
  • NM_001407662.1:c.325delA
  • NM_001407663.1:c.325delA
  • NM_001407664.1:c.403delA
  • NM_001407665.1:c.403delA
  • NM_001407666.1:c.403delA
  • NM_001407667.1:c.403delA
  • NM_001407668.1:c.403delA
  • NM_001407669.1:c.403delA
  • NM_001407670.1:c.403delA
  • NM_001407671.1:c.403delA
  • NM_001407672.1:c.403delA
  • NM_001407673.1:c.403delA
  • NM_001407674.1:c.403delA
  • NM_001407675.1:c.403delA
  • NM_001407676.1:c.403delA
  • NM_001407677.1:c.403delA
  • NM_001407678.1:c.403delA
  • NM_001407679.1:c.403delA
  • NM_001407680.1:c.403delA
  • NM_001407681.1:c.403delA
  • NM_001407682.1:c.403delA
  • NM_001407683.1:c.403delA
  • NM_001407684.1:c.403delA
  • NM_001407685.1:c.403delA
  • NM_001407686.1:c.403delA
  • NM_001407687.1:c.403delA
  • NM_001407688.1:c.403delA
  • NM_001407689.1:c.403delA
  • NM_001407690.1:c.403delA
  • NM_001407691.1:c.403delA
  • NM_001407692.1:c.262delA
  • NM_001407694.1:c.262delA
  • NM_001407695.1:c.262delA
  • NM_001407696.1:c.262delA
  • NM_001407697.1:c.262delA
  • NM_001407698.1:c.262delA
  • NM_001407724.1:c.262delA
  • NM_001407725.1:c.262delA
  • NM_001407726.1:c.262delA
  • NM_001407727.1:c.262delA
  • NM_001407728.1:c.262delA
  • NM_001407729.1:c.262delA
  • NM_001407730.1:c.262delA
  • NM_001407731.1:c.262delA
  • NM_001407732.1:c.262delA
  • NM_001407733.1:c.262delA
  • NM_001407734.1:c.262delA
  • NM_001407735.1:c.262delA
  • NM_001407736.1:c.262delA
  • NM_001407737.1:c.262delA
  • NM_001407738.1:c.262delA
  • NM_001407739.1:c.262delA
  • NM_001407740.1:c.262delA
  • NM_001407741.1:c.262delA
  • NM_001407742.1:c.262delA
  • NM_001407743.1:c.262delA
  • NM_001407744.1:c.262delA
  • NM_001407745.1:c.262delA
  • NM_001407746.1:c.262delA
  • NM_001407747.1:c.262delA
  • NM_001407748.1:c.262delA
  • NM_001407749.1:c.262delA
  • NM_001407750.1:c.262delA
  • NM_001407751.1:c.262delA
  • NM_001407752.1:c.262delA
  • NM_001407838.1:c.262delA
  • NM_001407839.1:c.262delA
  • NM_001407841.1:c.262delA
  • NM_001407842.1:c.262delA
  • NM_001407843.1:c.262delA
  • NM_001407844.1:c.262delA
  • NM_001407845.1:c.262delA
  • NM_001407846.1:c.262delA
  • NM_001407847.1:c.262delA
  • NM_001407848.1:c.262delA
  • NM_001407849.1:c.262delA
  • NM_001407850.1:c.262delA
  • NM_001407851.1:c.262delA
  • NM_001407852.1:c.262delA
  • NM_001407853.1:c.193delA
  • NM_001407854.1:c.403delA
  • NM_001407858.1:c.403delA
  • NM_001407859.1:c.403delA
  • NM_001407860.1:c.403delA
  • NM_001407861.1:c.403delA
  • NM_001407862.1:c.325delA
  • NM_001407863.1:c.403delA
  • NM_001407874.1:c.325delA
  • NM_001407875.1:c.325delA
  • NM_001407879.1:c.193delA
  • NM_001407881.1:c.193delA
  • NM_001407882.1:c.193delA
  • NM_001407884.1:c.193delA
  • NM_001407885.1:c.193delA
  • NM_001407886.1:c.193delA
  • NM_001407887.1:c.193delA
  • NM_001407889.1:c.193delA
  • NM_001407894.1:c.193delA
  • NM_001407895.1:c.193delA
  • NM_001407896.1:c.193delA
  • NM_001407897.1:c.193delA
  • NM_001407898.1:c.193delA
  • NM_001407899.1:c.193delA
  • NM_001407900.1:c.193delA
  • NM_001407902.1:c.193delA
  • NM_001407904.1:c.193delA
  • NM_001407906.1:c.193delA
  • NM_001407907.1:c.193delA
  • NM_001407908.1:c.193delA
  • NM_001407909.1:c.193delA
  • NM_001407910.1:c.193delA
  • NM_001407915.1:c.193delA
  • NM_001407916.1:c.193delA
  • NM_001407917.1:c.193delA
  • NM_001407918.1:c.193delA
  • NM_001407919.1:c.403delA
  • NM_001407920.1:c.262delA
  • NM_001407921.1:c.262delA
  • NM_001407922.1:c.262delA
  • NM_001407923.1:c.262delA
  • NM_001407924.1:c.262delA
  • NM_001407925.1:c.262delA
  • NM_001407926.1:c.262delA
  • NM_001407927.1:c.262delA
  • NM_001407928.1:c.262delA
  • NM_001407929.1:c.262delA
  • NM_001407930.1:c.262delA
  • NM_001407931.1:c.262delA
  • NM_001407932.1:c.262delA
  • NM_001407933.1:c.262delA
  • NM_001407934.1:c.262delA
  • NM_001407935.1:c.262delA
  • NM_001407936.1:c.262delA
  • NM_001407937.1:c.403delA
  • NM_001407938.1:c.403delA
  • NM_001407939.1:c.403delA
  • NM_001407940.1:c.403delA
  • NM_001407941.1:c.403delA
  • NM_001407942.1:c.262delA
  • NM_001407943.1:c.262delA
  • NM_001407944.1:c.262delA
  • NM_001407945.1:c.262delA
  • NM_001407946.1:c.193delA
  • NM_001407947.1:c.193delA
  • NM_001407948.1:c.193delA
  • NM_001407949.1:c.193delA
  • NM_001407950.1:c.193delA
  • NM_001407951.1:c.193delA
  • NM_001407952.1:c.193delA
  • NM_001407953.1:c.193delA
  • NM_001407954.1:c.193delA
  • NM_001407955.1:c.193delA
  • NM_001407956.1:c.193delA
  • NM_001407957.1:c.193delA
  • NM_001407958.1:c.193delA
  • NM_001407959.1:c.22delA
  • NM_001407960.1:c.22delA
  • NM_001407962.1:c.22delA
  • NM_001407963.1:c.22delA
  • NM_001407964.1:c.262delA
  • NM_001407965.1:c.22delA
  • NM_001407968.1:c.403delA
  • NM_001407969.1:c.403delA
  • NM_001407970.1:c.403delA
  • NM_001407971.1:c.403delA
  • NM_001407972.1:c.403delA
  • NM_001407973.1:c.403delA
  • NM_001407974.1:c.403delA
  • NM_001407975.1:c.403delA
  • NM_001407976.1:c.403delA
  • NM_001407977.1:c.403delA
  • NM_001407978.1:c.403delA
  • NM_001407979.1:c.403delA
  • NM_001407980.1:c.403delA
  • NM_001407981.1:c.403delA
  • NM_001407982.1:c.403delA
  • NM_001407983.1:c.403delA
  • NM_001407984.1:c.403delA
  • NM_001407985.1:c.403delA
  • NM_001407986.1:c.403delA
  • NM_001407990.1:c.403delA
  • NM_001407991.1:c.403delA
  • NM_001407992.1:c.403delA
  • NM_001407993.1:c.403delA
  • NM_001408392.1:c.403delA
  • NM_001408396.1:c.403delA
  • NM_001408397.1:c.403delA
  • NM_001408398.1:c.403delA
  • NM_001408399.1:c.403delA
  • NM_001408400.1:c.403delA
  • NM_001408401.1:c.403delA
  • NM_001408402.1:c.403delA
  • NM_001408403.1:c.403delA
  • NM_001408404.1:c.403delA
  • NM_001408406.1:c.403delA
  • NM_001408407.1:c.403delA
  • NM_001408408.1:c.394delA
  • NM_001408409.1:c.325delA
  • NM_001408410.1:c.262delA
  • NM_001408411.1:c.325delA
  • NM_001408412.1:c.325delA
  • NM_001408413.1:c.325delA
  • NM_001408414.1:c.325delA
  • NM_001408415.1:c.325delA
  • NM_001408416.1:c.325delA
  • NM_001408418.1:c.403delA
  • NM_001408419.1:c.403delA
  • NM_001408420.1:c.403delA
  • NM_001408421.1:c.403delA
  • NM_001408422.1:c.403delA
  • NM_001408423.1:c.403delA
  • NM_001408424.1:c.403delA
  • NM_001408425.1:c.403delA
  • NM_001408426.1:c.403delA
  • NM_001408427.1:c.403delA
  • NM_001408428.1:c.403delA
  • NM_001408429.1:c.403delA
  • NM_001408430.1:c.403delA
  • NM_001408431.1:c.403delA
  • NM_001408432.1:c.403delA
  • NM_001408433.1:c.403delA
  • NM_001408434.1:c.403delA
  • NM_001408435.1:c.403delA
  • NM_001408436.1:c.403delA
  • NM_001408437.1:c.403delA
  • NM_001408438.1:c.403delA
  • NM_001408439.1:c.403delA
  • NM_001408440.1:c.403delA
  • NM_001408441.1:c.403delA
  • NM_001408442.1:c.403delA
  • NM_001408443.1:c.403delA
  • NM_001408444.1:c.403delA
  • NM_001408445.1:c.403delA
  • NM_001408446.1:c.403delA
  • NM_001408447.1:c.403delA
  • NM_001408448.1:c.403delA
  • NM_001408450.1:c.403delA
  • NM_001408451.1:c.271delA
  • NM_001408452.1:c.262delA
  • NM_001408453.1:c.262delA
  • NM_001408454.1:c.262delA
  • NM_001408455.1:c.262delA
  • NM_001408456.1:c.262delA
  • NM_001408457.1:c.262delA
  • NM_001408458.1:c.262delA
  • NM_001408459.1:c.262delA
  • NM_001408460.1:c.262delA
  • NM_001408461.1:c.262delA
  • NM_001408462.1:c.262delA
  • NM_001408463.1:c.262delA
  • NM_001408464.1:c.262delA
  • NM_001408465.1:c.262delA
  • NM_001408466.1:c.262delA
  • NM_001408467.1:c.262delA
  • NM_001408468.1:c.262delA
  • NM_001408469.1:c.262delA
  • NM_001408470.1:c.262delA
  • NM_001408472.1:c.403delA
  • NM_001408473.1:c.403delA
  • NM_001408474.1:c.325delA
  • NM_001408475.1:c.325delA
  • NM_001408476.1:c.325delA
  • NM_001408478.1:c.193delA
  • NM_001408479.1:c.193delA
  • NM_001408480.1:c.193delA
  • NM_001408481.1:c.193delA
  • NM_001408482.1:c.193delA
  • NM_001408483.1:c.193delA
  • NM_001408484.1:c.193delA
  • NM_001408485.1:c.193delA
  • NM_001408489.1:c.193delA
  • NM_001408490.1:c.193delA
  • NM_001408491.1:c.193delA
  • NM_001408492.1:c.193delA
  • NM_001408493.1:c.193delA
  • NM_001408494.1:c.403delA
  • NM_001408495.1:c.403delA
  • NM_001408496.1:c.262delA
  • NM_001408497.1:c.262delA
  • NM_001408498.1:c.262delA
  • NM_001408499.1:c.262delA
  • NM_001408500.1:c.262delA
  • NM_001408501.1:c.262delA
  • NM_001408502.1:c.193delA
  • NM_001408503.1:c.262delA
  • NM_001408504.1:c.262delA
  • NM_001408505.1:c.262delA
  • NM_001408506.1:c.193delA
  • NM_001408507.1:c.193delA
  • NM_001408508.1:c.193delA
  • NM_001408509.1:c.193delA
  • NM_001408510.1:c.22delA
  • NM_001408511.1:c.262delA
  • NM_001408512.1:c.22delA
  • NM_001408513.1:c.193delA
  • NM_001408514.1:c.193delA
  • NM_007294.4:c.406delMANE SELECT
  • NM_007297.4:c.265del
  • NM_007298.4:c.403delA
  • NM_007299.4:c.406del
  • NM_007300.4:c.406del
  • NM_007304.2:c.403delA
  • NP_001394500.1:p.Arg66Aspfs
  • NP_001394510.1:p.Arg136Aspfs
  • NP_001394511.1:p.Arg136Aspfs
  • NP_001394512.1:p.Arg136Aspfs
  • NP_001394514.1:p.Arg136Aspfs
  • NP_001394516.1:p.Arg136Aspfs
  • NP_001394519.1:p.Arg136Aspfs
  • NP_001394520.1:p.Arg136Aspfs
  • NP_001394522.1:p.Arg136Aspfs
  • NP_001394523.1:p.Arg136Aspfs
  • NP_001394525.1:p.Arg136Aspfs
  • NP_001394526.1:p.Arg136Aspfs
  • NP_001394527.1:p.Arg136Aspfs
  • NP_001394531.1:p.Arg136Aspfs
  • NP_001394532.1:p.Arg136Aspfs
  • NP_001394534.1:p.Arg136Aspfs
  • NP_001394539.1:p.Arg136Aspfs
  • NP_001394540.1:p.Arg136Aspfs
  • NP_001394541.1:p.Arg136Aspfs
  • NP_001394542.1:p.Arg136Aspfs
  • NP_001394543.1:p.Arg136Aspfs
  • NP_001394544.1:p.Arg136Aspfs
  • NP_001394545.1:p.Arg136Aspfs
  • NP_001394546.1:p.Arg136Aspfs
  • NP_001394547.1:p.Arg136Aspfs
  • NP_001394548.1:p.Arg136Aspfs
  • NP_001394549.1:p.Arg136Aspfs
  • NP_001394550.1:p.Arg136Aspfs
  • NP_001394551.1:p.Arg136Aspfs
  • NP_001394552.1:p.Arg136Aspfs
  • NP_001394553.1:p.Arg136Aspfs
  • NP_001394554.1:p.Arg136Aspfs
  • NP_001394555.1:p.Arg136Aspfs
  • NP_001394556.1:p.Arg136Aspfs
  • NP_001394557.1:p.Arg136Aspfs
  • NP_001394558.1:p.Arg136Aspfs
  • NP_001394559.1:p.Arg136Aspfs
  • NP_001394560.1:p.Arg136Aspfs
  • NP_001394561.1:p.Arg136Aspfs
  • NP_001394562.1:p.Arg136Aspfs
  • NP_001394563.1:p.Arg136Aspfs
  • NP_001394564.1:p.Arg136Aspfs
  • NP_001394565.1:p.Arg136Aspfs
  • NP_001394566.1:p.Arg136Aspfs
  • NP_001394567.1:p.Arg136Aspfs
  • NP_001394568.1:p.Arg136Aspfs
  • NP_001394569.1:p.Arg136Aspfs
  • NP_001394570.1:p.Arg136Aspfs
  • NP_001394571.1:p.Arg136Aspfs
  • NP_001394573.1:p.Arg136Aspfs
  • NP_001394574.1:p.Arg136Aspfs
  • NP_001394575.1:p.Arg133Aspfs
  • NP_001394576.1:p.Arg133Aspfs
  • NP_001394577.1:p.Arg136Aspfs
  • NP_001394578.1:p.Arg136Aspfs
  • NP_001394581.1:p.Arg136Aspfs
  • NP_001394582.1:p.Arg110Aspfs
  • NP_001394583.1:p.Arg110Aspfs
  • NP_001394584.1:p.Arg110Aspfs
  • NP_001394585.1:p.Arg110Aspfs
  • NP_001394586.1:p.Arg110Aspfs
  • NP_001394587.1:p.Arg110Aspfs
  • NP_001394588.1:p.Arg110Aspfs
  • NP_001394589.1:p.Arg110Aspfs
  • NP_001394590.1:p.Arg110Aspfs
  • NP_001394591.1:p.Arg110Aspfs
  • NP_001394592.1:p.Arg110Aspfs
  • NP_001394593.1:p.Arg136Aspfs
  • NP_001394594.1:p.Arg136Aspfs
  • NP_001394595.1:p.Arg136Aspfs
  • NP_001394596.1:p.Arg136Aspfs
  • NP_001394597.1:p.Arg136Aspfs
  • NP_001394598.1:p.Arg136Aspfs
  • NP_001394599.1:p.Arg136Aspfs
  • NP_001394600.1:p.Arg136Aspfs
  • NP_001394601.1:p.Arg136Aspfs
  • NP_001394602.1:p.Arg136Aspfs
  • NP_001394603.1:p.Arg136Aspfs
  • NP_001394604.1:p.Arg136Aspfs
  • NP_001394605.1:p.Arg136Aspfs
  • NP_001394606.1:p.Arg136Aspfs
  • NP_001394607.1:p.Arg136Aspfs
  • NP_001394608.1:p.Arg136Aspfs
  • NP_001394609.1:p.Arg136Aspfs
  • NP_001394610.1:p.Arg136Aspfs
  • NP_001394611.1:p.Arg136Aspfs
  • NP_001394612.1:p.Arg136Aspfs
  • NP_001394613.1:p.Arg136Aspfs
  • NP_001394614.1:p.Arg136Aspfs
  • NP_001394615.1:p.Arg136Aspfs
  • NP_001394616.1:p.Arg136Aspfs
  • NP_001394617.1:p.Arg136Aspfs
  • NP_001394618.1:p.Arg136Aspfs
  • NP_001394619.1:p.Arg136Aspfs
  • NP_001394620.1:p.Arg136Aspfs
  • NP_001394621.1:p.Arg89Aspfs
  • NP_001394623.1:p.Arg89Aspfs
  • NP_001394624.1:p.Arg89Aspfs
  • NP_001394625.1:p.Arg89Aspfs
  • NP_001394626.1:p.Arg89Aspfs
  • NP_001394627.1:p.Arg89Aspfs
  • NP_001394653.1:p.Arg89Aspfs
  • NP_001394654.1:p.Arg89Aspfs
  • NP_001394655.1:p.Arg89Aspfs
  • NP_001394656.1:p.Arg89Aspfs
  • NP_001394657.1:p.Arg89Aspfs
  • NP_001394658.1:p.Arg89Aspfs
  • NP_001394659.1:p.Arg89Aspfs
  • NP_001394660.1:p.Arg89Aspfs
  • NP_001394661.1:p.Arg89Aspfs
  • NP_001394662.1:p.Arg89Aspfs
  • NP_001394663.1:p.Arg89Aspfs
  • NP_001394664.1:p.Arg89Aspfs
  • NP_001394665.1:p.Arg89Aspfs
  • NP_001394666.1:p.Arg89Aspfs
  • NP_001394667.1:p.Arg89Aspfs
  • NP_001394668.1:p.Arg89Aspfs
  • NP_001394669.1:p.Arg89Aspfs
  • NP_001394670.1:p.Arg89Aspfs
  • NP_001394671.1:p.Arg89Aspfs
  • NP_001394672.1:p.Arg89Aspfs
  • NP_001394673.1:p.Arg89Aspfs
  • NP_001394674.1:p.Arg89Aspfs
  • NP_001394675.1:p.Arg89Aspfs
  • NP_001394676.1:p.Arg89Aspfs
  • NP_001394677.1:p.Arg89Aspfs
  • NP_001394678.1:p.Arg89Aspfs
  • NP_001394679.1:p.Arg89Aspfs
  • NP_001394680.1:p.Arg89Aspfs
  • NP_001394681.1:p.Arg89Aspfs
  • NP_001394767.1:p.Arg89Aspfs
  • NP_001394768.1:p.Arg89Aspfs
  • NP_001394770.1:p.Arg89Aspfs
  • NP_001394771.1:p.Arg89Aspfs
  • NP_001394772.1:p.Arg89Aspfs
  • NP_001394773.1:p.Arg89Aspfs
  • NP_001394774.1:p.Arg89Aspfs
  • NP_001394775.1:p.Arg89Aspfs
  • NP_001394776.1:p.Arg89Aspfs
  • NP_001394777.1:p.Arg89Aspfs
  • NP_001394778.1:p.Arg89Aspfs
  • NP_001394779.1:p.Arg89Aspfs
  • NP_001394780.1:p.Arg89Aspfs
  • NP_001394781.1:p.Arg89Aspfs
  • NP_001394782.1:p.Arg66Aspfs
  • NP_001394783.1:p.Arg136Aspfs
  • NP_001394787.1:p.Arg136Aspfs
  • NP_001394788.1:p.Arg136Aspfs
  • NP_001394789.1:p.Arg136Aspfs
  • NP_001394790.1:p.Arg136Aspfs
  • NP_001394791.1:p.Arg110Aspfs
  • NP_001394792.1:p.Arg136Aspfs
  • NP_001394803.1:p.Arg110Aspfs
  • NP_001394804.1:p.Arg110Aspfs
  • NP_001394808.1:p.Arg66Aspfs
  • NP_001394810.1:p.Arg66Aspfs
  • NP_001394811.1:p.Arg66Aspfs
  • NP_001394813.1:p.Arg66Aspfs
  • NP_001394814.1:p.Arg66Aspfs
  • NP_001394815.1:p.Arg66Aspfs
  • NP_001394816.1:p.Arg66Aspfs
  • NP_001394818.1:p.Arg66Aspfs
  • NP_001394823.1:p.Arg66Aspfs
  • NP_001394824.1:p.Arg66Aspfs
  • NP_001394825.1:p.Arg66Aspfs
  • NP_001394826.1:p.Arg66Aspfs
  • NP_001394827.1:p.Arg66Aspfs
  • NP_001394828.1:p.Arg66Aspfs
  • NP_001394829.1:p.Arg66Aspfs
  • NP_001394831.1:p.Arg66Aspfs
  • NP_001394833.1:p.Arg66Aspfs
  • NP_001394835.1:p.Arg66Aspfs
  • NP_001394836.1:p.Arg66Aspfs
  • NP_001394837.1:p.Arg66Aspfs
  • NP_001394838.1:p.Arg66Aspfs
  • NP_001394839.1:p.Arg66Aspfs
  • NP_001394844.1:p.Arg66Aspfs
  • NP_001394845.1:p.Arg66Aspfs
  • NP_001394846.1:p.Arg66Aspfs
  • NP_001394847.1:p.Arg66Aspfs
  • NP_001394848.1:p.Arg136Aspfs
  • NP_001394849.1:p.Arg89Aspfs
  • NP_001394850.1:p.Arg89Aspfs
  • NP_001394851.1:p.Arg89Aspfs
  • NP_001394852.1:p.Arg89Aspfs
  • NP_001394853.1:p.Arg89Aspfs
  • NP_001394854.1:p.Arg89Aspfs
  • NP_001394855.1:p.Arg89Aspfs
  • NP_001394856.1:p.Arg89Aspfs
  • NP_001394857.1:p.Arg89Aspfs
  • NP_001394858.1:p.Arg89Aspfs
  • NP_001394859.1:p.Arg89Aspfs
  • NP_001394860.1:p.Arg89Aspfs
  • NP_001394861.1:p.Arg89Aspfs
  • NP_001394862.1:p.Arg89Aspfs
  • NP_001394863.1:p.Arg89Aspfs
  • NP_001394864.1:p.Arg89Aspfs
  • NP_001394865.1:p.Arg89Aspfs
  • NP_001394866.1:p.Arg136Aspfs
  • NP_001394867.1:p.Arg136Aspfs
  • NP_001394868.1:p.Arg136Aspfs
  • NP_001394869.1:p.Arg136Aspfs
  • NP_001394870.1:p.Arg136Aspfs
  • NP_001394871.1:p.Arg89Aspfs
  • NP_001394872.1:p.Arg89Aspfs
  • NP_001394873.1:p.Arg89Aspfs
  • NP_001394874.1:p.Arg89Aspfs
  • NP_001394875.1:p.Arg66Aspfs
  • NP_001394876.1:p.Arg66Aspfs
  • NP_001394877.1:p.Arg66Aspfs
  • NP_001394878.1:p.Arg66Aspfs
  • NP_001394879.1:p.Arg66Aspfs
  • NP_001394880.1:p.Arg66Aspfs
  • NP_001394881.1:p.Arg66Aspfs
  • NP_001394882.1:p.Arg66Aspfs
  • NP_001394883.1:p.Arg66Aspfs
  • NP_001394884.1:p.Arg66Aspfs
  • NP_001394885.1:p.Arg66Aspfs
  • NP_001394886.1:p.Arg66Aspfs
  • NP_001394887.1:p.Arg66Aspfs
  • NP_001394888.1:p.Arg9Aspfs
  • NP_001394889.1:p.Arg9Aspfs
  • NP_001394891.1:p.Arg9Aspfs
  • NP_001394892.1:p.Arg9Aspfs
  • NP_001394893.1:p.Arg89Aspfs
  • NP_001394894.1:p.Arg9Aspfs
  • NP_001394897.1:p.Arg136Aspfs
  • NP_001394898.1:p.Arg136Aspfs
  • NP_001394899.1:p.Arg136Aspfs
  • NP_001394900.1:p.Arg136Aspfs
  • NP_001394901.1:p.Arg136Aspfs
  • NP_001394902.1:p.Arg136Aspfs
  • NP_001394903.1:p.Arg136Aspfs
  • NP_001394904.1:p.Arg136Aspfs
  • NP_001394905.1:p.Arg136Aspfs
  • NP_001394906.1:p.Arg136Aspfs
  • NP_001394907.1:p.Arg136Aspfs
  • NP_001394908.1:p.Arg136Aspfs
  • NP_001394909.1:p.Arg136Aspfs
  • NP_001394910.1:p.Arg136Aspfs
  • NP_001394911.1:p.Arg136Aspfs
  • NP_001394912.1:p.Arg136Aspfs
  • NP_001394913.1:p.Arg136Aspfs
  • NP_001394914.1:p.Arg136Aspfs
  • NP_001394915.1:p.Arg136Aspfs
  • NP_001394919.1:p.Arg136Aspfs
  • NP_001394920.1:p.Arg136Aspfs
  • NP_001394921.1:p.Arg136Aspfs
  • NP_001394922.1:p.Arg136Aspfs
  • NP_001395321.1:p.Arg136Aspfs
  • NP_001395325.1:p.Arg136Aspfs
  • NP_001395326.1:p.Arg136Aspfs
  • NP_001395327.1:p.Arg136Aspfs
  • NP_001395328.1:p.Arg136Aspfs
  • NP_001395329.1:p.Arg136Aspfs
  • NP_001395330.1:p.Arg136Aspfs
  • NP_001395331.1:p.Arg136Aspfs
  • NP_001395332.1:p.Arg136Aspfs
  • NP_001395333.1:p.Arg136Aspfs
  • NP_001395335.1:p.Arg136Aspfs
  • NP_001395336.1:p.Arg136Aspfs
  • NP_001395337.1:p.Arg133Aspfs
  • NP_001395338.1:p.Arg110Aspfs
  • NP_001395339.1:p.Arg89Aspfs
  • NP_001395340.1:p.Arg110Aspfs
  • NP_001395341.1:p.Arg110Aspfs
  • NP_001395342.1:p.Arg110Aspfs
  • NP_001395343.1:p.Arg110Aspfs
  • NP_001395344.1:p.Arg110Aspfs
  • NP_001395345.1:p.Arg110Aspfs
  • NP_001395347.1:p.Arg136Aspfs
  • NP_001395348.1:p.Arg136Aspfs
  • NP_001395349.1:p.Arg136Aspfs
  • NP_001395350.1:p.Arg136Aspfs
  • NP_001395351.1:p.Arg136Aspfs
  • NP_001395352.1:p.Arg136Aspfs
  • NP_001395353.1:p.Arg136Aspfs
  • NP_001395354.1:p.Arg136Aspfs
  • NP_001395355.1:p.Arg136Aspfs
  • NP_001395356.1:p.Arg136Aspfs
  • NP_001395357.1:p.Arg136Aspfs
  • NP_001395358.1:p.Arg136Aspfs
  • NP_001395359.1:p.Arg136Aspfs
  • NP_001395360.1:p.Arg136Aspfs
  • NP_001395361.1:p.Arg136Aspfs
  • NP_001395362.1:p.Arg136Aspfs
  • NP_001395363.1:p.Arg136Aspfs
  • NP_001395364.1:p.Arg136Aspfs
  • NP_001395365.1:p.Arg136Aspfs
  • NP_001395366.1:p.Arg136Aspfs
  • NP_001395367.1:p.Arg136Aspfs
  • NP_001395368.1:p.Arg136Aspfs
  • NP_001395369.1:p.Arg136Aspfs
  • NP_001395370.1:p.Arg136Aspfs
  • NP_001395371.1:p.Arg136Aspfs
  • NP_001395372.1:p.Arg136Aspfs
  • NP_001395373.1:p.Arg136Aspfs
  • NP_001395374.1:p.Arg136Aspfs
  • NP_001395375.1:p.Arg136Aspfs
  • NP_001395376.1:p.Arg136Aspfs
  • NP_001395377.1:p.Arg136Aspfs
  • NP_001395379.1:p.Arg136Aspfs
  • NP_001395380.1:p.Arg92Aspfs
  • NP_001395381.1:p.Arg89Aspfs
  • NP_001395382.1:p.Arg89Aspfs
  • NP_001395383.1:p.Arg89Aspfs
  • NP_001395384.1:p.Arg89Aspfs
  • NP_001395385.1:p.Arg89Aspfs
  • NP_001395386.1:p.Arg89Aspfs
  • NP_001395387.1:p.Arg89Aspfs
  • NP_001395388.1:p.Arg89Aspfs
  • NP_001395389.1:p.Arg89Aspfs
  • NP_001395390.1:p.Arg89Aspfs
  • NP_001395391.1:p.Arg89Aspfs
  • NP_001395392.1:p.Arg89Aspfs
  • NP_001395393.1:p.Arg89Aspfs
  • NP_001395394.1:p.Arg89Aspfs
  • NP_001395395.1:p.Arg89Aspfs
  • NP_001395396.1:p.Arg89Aspfs
  • NP_001395397.1:p.Arg89Aspfs
  • NP_001395398.1:p.Arg89Aspfs
  • NP_001395399.1:p.Arg89Aspfs
  • NP_001395401.1:p.Arg136Aspfs
  • NP_001395402.1:p.Arg136Aspfs
  • NP_001395403.1:p.Arg110Aspfs
  • NP_001395404.1:p.Arg110Aspfs
  • NP_001395405.1:p.Arg110Aspfs
  • NP_001395407.1:p.Arg66Aspfs
  • NP_001395408.1:p.Arg66Aspfs
  • NP_001395409.1:p.Arg66Aspfs
  • NP_001395410.1:p.Arg66Aspfs
  • NP_001395411.1:p.Arg66Aspfs
  • NP_001395412.1:p.Arg66Aspfs
  • NP_001395413.1:p.Arg66Aspfs
  • NP_001395414.1:p.Arg66Aspfs
  • NP_001395418.1:p.Arg66Aspfs
  • NP_001395419.1:p.Arg66Aspfs
  • NP_001395420.1:p.Arg66Aspfs
  • NP_001395421.1:p.Arg66Aspfs
  • NP_001395422.1:p.Arg66Aspfs
  • NP_001395423.1:p.Arg136Aspfs
  • NP_001395424.1:p.Arg136Aspfs
  • NP_001395425.1:p.Arg89Aspfs
  • NP_001395426.1:p.Arg89Aspfs
  • NP_001395427.1:p.Arg89Aspfs
  • NP_001395428.1:p.Arg89Aspfs
  • NP_001395429.1:p.Arg89Aspfs
  • NP_001395430.1:p.Arg89Aspfs
  • NP_001395431.1:p.Arg66Aspfs
  • NP_001395432.1:p.Arg89Aspfs
  • NP_001395433.1:p.Arg89Aspfs
  • NP_001395434.1:p.Arg89Aspfs
  • NP_001395435.1:p.Arg66Aspfs
  • NP_001395436.1:p.Arg66Aspfs
  • NP_001395437.1:p.Arg66Aspfs
  • NP_001395438.1:p.Arg66Aspfs
  • NP_001395439.1:p.Arg9Aspfs
  • NP_001395440.1:p.Arg89Aspfs
  • NP_001395441.1:p.Arg9Aspfs
  • NP_001395442.1:p.Arg66Aspfs
  • NP_001395443.1:p.Arg66Aspfs
  • NP_009225.1:p.Arg136Aspfs
  • NP_009225.1:p.Arg136fs
  • NP_009225.1:p.Arg136fs
  • NP_009228.2:p.Arg89fs
  • NP_009229.2:p.Arg136Aspfs
  • NP_009229.2:p.Arg136fs
  • NP_009230.2:p.Arg136fs
  • NP_009231.2:p.Arg136fs
  • NP_009235.2:p.Arg136Aspfs
  • LRG_292t1:c.406del
  • LRG_292:g.113827del
  • LRG_292p1:p.Arg136fs
  • NC_000017.10:g.41256174del
  • NC_000017.10:g.41256177del
  • NM_007294.3:c.403delA
  • NM_007294.3:c.406del
  • NM_007294.3:c.406delA
  • NM_007298.3:c.406del
  • NR_027676.2:n.586del
  • p.Arg136fs
Protein change:
R136fs
Links:
dbSNP: rs80357709
NCBI 1000 Genomes Browser:
rs80357709
Molecular consequence:
  • NM_001407571.1:c.193delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407581.1:c.403delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407582.1:c.403delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407583.1:c.403delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407585.1:c.403delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407587.1:c.403delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407590.1:c.403delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407591.1:c.403delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407593.1:c.403delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407594.1:c.403delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407596.1:c.403delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407597.1:c.403delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407598.1:c.403delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407602.1:c.403delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407603.1:c.403delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407605.1:c.403delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407610.1:c.403delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407611.1:c.403delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407612.1:c.403delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407613.1:c.403delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407614.1:c.403delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407615.1:c.403delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407616.1:c.403delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407617.1:c.403delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407618.1:c.403delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407619.1:c.403delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407620.1:c.403delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407621.1:c.403delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407622.1:c.403delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407623.1:c.403delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407624.1:c.403delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407625.1:c.403delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407626.1:c.403delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407627.1:c.403delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407628.1:c.403delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407629.1:c.403delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407630.1:c.403delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407631.1:c.403delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407632.1:c.403delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407633.1:c.403delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407634.1:c.403delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407635.1:c.403delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407636.1:c.403delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407637.1:c.403delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407638.1:c.403delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407639.1:c.403delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407640.1:c.403delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407641.1:c.403delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407642.1:c.403delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407644.1:c.403delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407645.1:c.403delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407646.1:c.394delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407647.1:c.394delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407648.1:c.403delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407649.1:c.403delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407652.1:c.403delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407653.1:c.325delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407654.1:c.325delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407655.1:c.325delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407656.1:c.325delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407657.1:c.325delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407658.1:c.325delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407659.1:c.325delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407660.1:c.325delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407661.1:c.325delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407662.1:c.325delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407663.1:c.325delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407664.1:c.403delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407665.1:c.403delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407666.1:c.403delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407667.1:c.403delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407668.1:c.403delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407669.1:c.403delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407670.1:c.403delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407671.1:c.403delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407672.1:c.403delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407673.1:c.403delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407674.1:c.403delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407675.1:c.403delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407676.1:c.403delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407677.1:c.403delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407678.1:c.403delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407679.1:c.403delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407680.1:c.403delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407681.1:c.403delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407682.1:c.403delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407683.1:c.403delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407684.1:c.403delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407685.1:c.403delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407686.1:c.403delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407687.1:c.403delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407688.1:c.403delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407689.1:c.403delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407690.1:c.403delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407691.1:c.403delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407692.1:c.262delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407694.1:c.262delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407695.1:c.262delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407696.1:c.262delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407697.1:c.262delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407698.1:c.262delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407724.1:c.262delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407725.1:c.262delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407726.1:c.262delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407727.1:c.262delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407728.1:c.262delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407729.1:c.262delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407730.1:c.262delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407731.1:c.262delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407732.1:c.262delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407733.1:c.262delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407734.1:c.262delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407735.1:c.262delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407736.1:c.262delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407737.1:c.262delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407738.1:c.262delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407739.1:c.262delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407740.1:c.262delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407741.1:c.262delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407742.1:c.262delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407743.1:c.262delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407744.1:c.262delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407745.1:c.262delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407746.1:c.262delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407747.1:c.262delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407748.1:c.262delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407749.1:c.262delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407750.1:c.262delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407751.1:c.262delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407752.1:c.262delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407838.1:c.262delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407839.1:c.262delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407841.1:c.262delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407842.1:c.262delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407843.1:c.262delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407844.1:c.262delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407845.1:c.262delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407846.1:c.262delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407847.1:c.262delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407848.1:c.262delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407849.1:c.262delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407850.1:c.262delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407851.1:c.262delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407852.1:c.262delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407853.1:c.193delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407854.1:c.403delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407858.1:c.403delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407859.1:c.403delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407860.1:c.403delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407861.1:c.403delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407862.1:c.325delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407863.1:c.403delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407874.1:c.325delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407875.1:c.325delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407879.1:c.193delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407881.1:c.193delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407882.1:c.193delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407884.1:c.193delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407885.1:c.193delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407886.1:c.193delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407887.1:c.193delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407889.1:c.193delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407894.1:c.193delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407895.1:c.193delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407896.1:c.193delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407897.1:c.193delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407898.1:c.193delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407899.1:c.193delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407900.1:c.193delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407902.1:c.193delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407904.1:c.193delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407906.1:c.193delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407907.1:c.193delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407908.1:c.193delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407909.1:c.193delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407910.1:c.193delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407915.1:c.193delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407916.1:c.193delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407917.1:c.193delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407918.1:c.193delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407919.1:c.403delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407920.1:c.262delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407921.1:c.262delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407922.1:c.262delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407923.1:c.262delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407924.1:c.262delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407925.1:c.262delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407926.1:c.262delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407927.1:c.262delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407928.1:c.262delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407929.1:c.262delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407930.1:c.262delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407931.1:c.262delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407932.1:c.262delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407933.1:c.262delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407934.1:c.262delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407935.1:c.262delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407936.1:c.262delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407937.1:c.403delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407938.1:c.403delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407939.1:c.403delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407940.1:c.403delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407941.1:c.403delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407942.1:c.262delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407943.1:c.262delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407944.1:c.262delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407945.1:c.262delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407946.1:c.193delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407947.1:c.193delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407948.1:c.193delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407949.1:c.193delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407950.1:c.193delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407951.1:c.193delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407952.1:c.193delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407953.1:c.193delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407954.1:c.193delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407955.1:c.193delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407956.1:c.193delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407957.1:c.193delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407958.1:c.193delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407959.1:c.22delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407960.1:c.22delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407962.1:c.22delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407963.1:c.22delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407964.1:c.262delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407965.1:c.22delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407968.1:c.403delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407969.1:c.403delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407970.1:c.403delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407971.1:c.403delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407972.1:c.403delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407973.1:c.403delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407974.1:c.403delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407975.1:c.403delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407976.1:c.403delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407977.1:c.403delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407978.1:c.403delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407979.1:c.403delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407980.1:c.403delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407981.1:c.403delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407982.1:c.403delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407983.1:c.403delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407984.1:c.403delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407985.1:c.403delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407986.1:c.403delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407990.1:c.403delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407991.1:c.403delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407992.1:c.403delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407993.1:c.403delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408392.1:c.403delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408396.1:c.403delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408397.1:c.403delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408398.1:c.403delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408399.1:c.403delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408400.1:c.403delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408401.1:c.403delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408402.1:c.403delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408403.1:c.403delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408404.1:c.403delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408406.1:c.403delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408407.1:c.403delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408408.1:c.394delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408409.1:c.325delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408410.1:c.262delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408411.1:c.325delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408412.1:c.325delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408413.1:c.325delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408414.1:c.325delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408415.1:c.325delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408416.1:c.325delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408418.1:c.403delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408419.1:c.403delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408420.1:c.403delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408421.1:c.403delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408422.1:c.403delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408423.1:c.403delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408424.1:c.403delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408425.1:c.403delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408426.1:c.403delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408427.1:c.403delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408428.1:c.403delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408429.1:c.403delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408430.1:c.403delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408431.1:c.403delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408432.1:c.403delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408433.1:c.403delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408434.1:c.403delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408435.1:c.403delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408436.1:c.403delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408437.1:c.403delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408438.1:c.403delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408439.1:c.403delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408440.1:c.403delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408441.1:c.403delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408442.1:c.403delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408443.1:c.403delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408444.1:c.403delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408445.1:c.403delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408446.1:c.403delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408447.1:c.403delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408448.1:c.403delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408450.1:c.403delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408451.1:c.271delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408452.1:c.262delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408453.1:c.262delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408454.1:c.262delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408455.1:c.262delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408456.1:c.262delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408457.1:c.262delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408458.1:c.262delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408459.1:c.262delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408460.1:c.262delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408461.1:c.262delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408462.1:c.262delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408463.1:c.262delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408464.1:c.262delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408465.1:c.262delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408466.1:c.262delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408467.1:c.262delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408468.1:c.262delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408469.1:c.262delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408470.1:c.262delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408472.1:c.403delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408473.1:c.403delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408474.1:c.325delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408475.1:c.325delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408476.1:c.325delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408478.1:c.193delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408479.1:c.193delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408480.1:c.193delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408481.1:c.193delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408482.1:c.193delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408483.1:c.193delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408484.1:c.193delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408485.1:c.193delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408489.1:c.193delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408490.1:c.193delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408491.1:c.193delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408492.1:c.193delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408493.1:c.193delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408494.1:c.403delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408495.1:c.403delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408496.1:c.262delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408497.1:c.262delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408498.1:c.262delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408499.1:c.262delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408500.1:c.262delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408501.1:c.262delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408502.1:c.193delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408503.1:c.262delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408504.1:c.262delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408505.1:c.262delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408506.1:c.193delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408507.1:c.193delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408508.1:c.193delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408509.1:c.193delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408510.1:c.22delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408511.1:c.262delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408512.1:c.22delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408513.1:c.193delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408514.1:c.193delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_007294.4:c.406del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_007297.4:c.265del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_007298.4:c.403delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_007299.4:c.406del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_007300.4:c.406del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_007304.2:c.403delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NR_027676.2:n.586del - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

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

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003856614Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Pathogenic
(Dec 12, 2022) 		germlineclinical testing

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

Citation Link

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Summary from all submissions

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

Citations

PubMed

Analysis of Italian BRCA1/2 Pathogenic Variants Identifies a Private Spectrum in the Population from the Bergamo Province in Northern Italy.

Figlioli G, De Nicolo A, Catucci I, Manoukian S, Peissel B, Azzollini J, Beltrami B, Bonanni B, Calvello M, Bondavalli D, Pasini B, Vignolo Lutati F, Ogliara P, Zuradelli M, Pensotti V, De Vecchi G, Volorio S, Verderio P, Pizzamiglio S, Matullo G, Aneli S, Birolo G, et al.

Cancers (Basel). 2021 Jan 30;13(3). doi:pii: 532. 10.3390/cancers13030532.

PubMed [citation]
PMID:
33573335
PMCID:
PMC7866799

Details of each submission

From Ambry Genetics, SCV003856614.2

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

Description

The c.406delA pathogenic mutation, located in coding exon 5 of the BRCA1 gene, results from a deletion of one nucleotide at nucleotide position 406, causing a translational frameshift with a predicted alternate stop codon (p.R136Dfs*27). This alteration was identified in 3 of 1019 Italian women affected with breast cancer with BRCA1/2 pathogenic variants (Figlioli G et al. Cancers (Basel), 2021 Jan;13:). This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). 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: Nov 10, 2024