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NM_007294.4(BRCA1):c.431del (p.Asn144fs) AND Hereditary cancer-predisposing syndrome

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jul 22, 2021
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:
RCV003584531.1

Allele description [Variation Report for NM_007294.4(BRCA1):c.431del (p.Asn144fs)]

NM_007294.4(BRCA1):c.431del (p.Asn144fs)

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.431del (p.Asn144fs)
Other names:
550delA
HGVS:
  • NC_000017.11:g.43104135del
  • NG_005905.2:g.113852del
  • NM_001407571.1:c.218delA
  • NM_001407581.1:c.428delA
  • NM_001407582.1:c.428delA
  • NM_001407583.1:c.428delA
  • NM_001407585.1:c.428delA
  • NM_001407587.1:c.428delA
  • NM_001407590.1:c.428delA
  • NM_001407591.1:c.428delA
  • NM_001407593.1:c.428delA
  • NM_001407594.1:c.428delA
  • NM_001407596.1:c.428delA
  • NM_001407597.1:c.428delA
  • NM_001407598.1:c.428delA
  • NM_001407602.1:c.428delA
  • NM_001407603.1:c.428delA
  • NM_001407605.1:c.428delA
  • NM_001407610.1:c.428delA
  • NM_001407611.1:c.428delA
  • NM_001407612.1:c.428delA
  • NM_001407613.1:c.428delA
  • NM_001407614.1:c.428delA
  • NM_001407615.1:c.428delA
  • NM_001407616.1:c.428delA
  • NM_001407617.1:c.428delA
  • NM_001407618.1:c.428delA
  • NM_001407619.1:c.428delA
  • NM_001407620.1:c.428delA
  • NM_001407621.1:c.428delA
  • NM_001407622.1:c.428delA
  • NM_001407623.1:c.428delA
  • NM_001407624.1:c.428delA
  • NM_001407625.1:c.428delA
  • NM_001407626.1:c.428delA
  • NM_001407627.1:c.428delA
  • NM_001407628.1:c.428delA
  • NM_001407629.1:c.428delA
  • NM_001407630.1:c.428delA
  • NM_001407631.1:c.428delA
  • NM_001407632.1:c.428delA
  • NM_001407633.1:c.428delA
  • NM_001407634.1:c.428delA
  • NM_001407635.1:c.428delA
  • NM_001407636.1:c.428delA
  • NM_001407637.1:c.428delA
  • NM_001407638.1:c.428delA
  • NM_001407639.1:c.428delA
  • NM_001407640.1:c.428delA
  • NM_001407641.1:c.428delA
  • NM_001407642.1:c.428delA
  • NM_001407644.1:c.428delA
  • NM_001407645.1:c.428delA
  • NM_001407646.1:c.419delA
  • NM_001407647.1:c.419delA
  • NM_001407648.1:c.428delA
  • NM_001407649.1:c.428delA
  • NM_001407652.1:c.428delA
  • NM_001407653.1:c.350delA
  • NM_001407654.1:c.350delA
  • NM_001407655.1:c.350delA
  • NM_001407656.1:c.350delA
  • NM_001407657.1:c.350delA
  • NM_001407658.1:c.350delA
  • NM_001407659.1:c.350delA
  • NM_001407660.1:c.350delA
  • NM_001407661.1:c.350delA
  • NM_001407662.1:c.350delA
  • NM_001407663.1:c.350delA
  • NM_001407664.1:c.428delA
  • NM_001407665.1:c.428delA
  • NM_001407666.1:c.428delA
  • NM_001407667.1:c.428delA
  • NM_001407668.1:c.428delA
  • NM_001407669.1:c.428delA
  • NM_001407670.1:c.428delA
  • NM_001407671.1:c.428delA
  • NM_001407672.1:c.428delA
  • NM_001407673.1:c.428delA
  • NM_001407674.1:c.428delA
  • NM_001407675.1:c.428delA
  • NM_001407676.1:c.428delA
  • NM_001407677.1:c.428delA
  • NM_001407678.1:c.428delA
  • NM_001407679.1:c.428delA
  • NM_001407680.1:c.428delA
  • NM_001407681.1:c.428delA
  • NM_001407682.1:c.428delA
  • NM_001407683.1:c.428delA
  • NM_001407684.1:c.428delA
  • NM_001407685.1:c.428delA
  • NM_001407686.1:c.428delA
  • NM_001407687.1:c.428delA
  • NM_001407688.1:c.428delA
  • NM_001407689.1:c.428delA
  • NM_001407690.1:c.428delA
  • NM_001407691.1:c.428delA
  • NM_001407692.1:c.287delA
  • NM_001407694.1:c.287delA
  • NM_001407695.1:c.287delA
  • NM_001407696.1:c.287delA
  • NM_001407697.1:c.287delA
  • NM_001407698.1:c.287delA
  • NM_001407724.1:c.287delA
  • NM_001407725.1:c.287delA
  • NM_001407726.1:c.287delA
  • NM_001407727.1:c.287delA
  • NM_001407728.1:c.287delA
  • NM_001407729.1:c.287delA
  • NM_001407730.1:c.287delA
  • NM_001407731.1:c.287delA
  • NM_001407732.1:c.287delA
  • NM_001407733.1:c.287delA
  • NM_001407734.1:c.287delA
  • NM_001407735.1:c.287delA
  • NM_001407736.1:c.287delA
  • NM_001407737.1:c.287delA
  • NM_001407738.1:c.287delA
  • NM_001407739.1:c.287delA
  • NM_001407740.1:c.287delA
  • NM_001407741.1:c.287delA
  • NM_001407742.1:c.287delA
  • NM_001407743.1:c.287delA
  • NM_001407744.1:c.287delA
  • NM_001407745.1:c.287delA
  • NM_001407746.1:c.287delA
  • NM_001407747.1:c.287delA
  • NM_001407748.1:c.287delA
  • NM_001407749.1:c.287delA
  • NM_001407750.1:c.287delA
  • NM_001407751.1:c.287delA
  • NM_001407752.1:c.287delA
  • NM_001407838.1:c.287delA
  • NM_001407839.1:c.287delA
  • NM_001407841.1:c.287delA
  • NM_001407842.1:c.287delA
  • NM_001407843.1:c.287delA
  • NM_001407844.1:c.287delA
  • NM_001407845.1:c.287delA
  • NM_001407846.1:c.287delA
  • NM_001407847.1:c.287delA
  • NM_001407848.1:c.287delA
  • NM_001407849.1:c.287delA
  • NM_001407850.1:c.287delA
  • NM_001407851.1:c.287delA
  • NM_001407852.1:c.287delA
  • NM_001407853.1:c.218delA
  • NM_001407854.1:c.428delA
  • NM_001407858.1:c.428delA
  • NM_001407859.1:c.428delA
  • NM_001407860.1:c.428delA
  • NM_001407861.1:c.428delA
  • NM_001407862.1:c.350delA
  • NM_001407863.1:c.428delA
  • NM_001407874.1:c.350delA
  • NM_001407875.1:c.350delA
  • NM_001407879.1:c.218delA
  • NM_001407881.1:c.218delA
  • NM_001407882.1:c.218delA
  • NM_001407884.1:c.218delA
  • NM_001407885.1:c.218delA
  • NM_001407886.1:c.218delA
  • NM_001407887.1:c.218delA
  • NM_001407889.1:c.218delA
  • NM_001407894.1:c.218delA
  • NM_001407895.1:c.218delA
  • NM_001407896.1:c.218delA
  • NM_001407897.1:c.218delA
  • NM_001407898.1:c.218delA
  • NM_001407899.1:c.218delA
  • NM_001407900.1:c.218delA
  • NM_001407902.1:c.218delA
  • NM_001407904.1:c.218delA
  • NM_001407906.1:c.218delA
  • NM_001407907.1:c.218delA
  • NM_001407908.1:c.218delA
  • NM_001407909.1:c.218delA
  • NM_001407910.1:c.218delA
  • NM_001407915.1:c.218delA
  • NM_001407916.1:c.218delA
  • NM_001407917.1:c.218delA
  • NM_001407918.1:c.218delA
  • NM_001407919.1:c.428delA
  • NM_001407920.1:c.287delA
  • NM_001407921.1:c.287delA
  • NM_001407922.1:c.287delA
  • NM_001407923.1:c.287delA
  • NM_001407924.1:c.287delA
  • NM_001407925.1:c.287delA
  • NM_001407926.1:c.287delA
  • NM_001407927.1:c.287delA
  • NM_001407928.1:c.287delA
  • NM_001407929.1:c.287delA
  • NM_001407930.1:c.287delA
  • NM_001407931.1:c.287delA
  • NM_001407932.1:c.287delA
  • NM_001407933.1:c.287delA
  • NM_001407934.1:c.287delA
  • NM_001407935.1:c.287delA
  • NM_001407936.1:c.287delA
  • NM_001407937.1:c.428delA
  • NM_001407938.1:c.428delA
  • NM_001407939.1:c.428delA
  • NM_001407940.1:c.428delA
  • NM_001407941.1:c.428delA
  • NM_001407942.1:c.287delA
  • NM_001407943.1:c.287delA
  • NM_001407944.1:c.287delA
  • NM_001407945.1:c.287delA
  • NM_001407946.1:c.218delA
  • NM_001407947.1:c.218delA
  • NM_001407948.1:c.218delA
  • NM_001407949.1:c.218delA
  • NM_001407950.1:c.218delA
  • NM_001407951.1:c.218delA
  • NM_001407952.1:c.218delA
  • NM_001407953.1:c.218delA
  • NM_001407954.1:c.218delA
  • NM_001407955.1:c.218delA
  • NM_001407956.1:c.218delA
  • NM_001407957.1:c.218delA
  • NM_001407958.1:c.218delA
  • NM_001407959.1:c.47delA
  • NM_001407960.1:c.47delA
  • NM_001407962.1:c.47delA
  • NM_001407963.1:c.47delA
  • NM_001407964.1:c.287delA
  • NM_001407965.1:c.47delA
  • NM_001407968.1:c.428delA
  • NM_001407969.1:c.428delA
  • NM_001407970.1:c.428delA
  • NM_001407971.1:c.428delA
  • NM_001407972.1:c.428delA
  • NM_001407973.1:c.428delA
  • NM_001407974.1:c.428delA
  • NM_001407975.1:c.428delA
  • NM_001407976.1:c.428delA
  • NM_001407977.1:c.428delA
  • NM_001407978.1:c.428delA
  • NM_001407979.1:c.428delA
  • NM_001407980.1:c.428delA
  • NM_001407981.1:c.428delA
  • NM_001407982.1:c.428delA
  • NM_001407983.1:c.428delA
  • NM_001407984.1:c.428delA
  • NM_001407985.1:c.428delA
  • NM_001407986.1:c.428delA
  • NM_001407990.1:c.428delA
  • NM_001407991.1:c.428delA
  • NM_001407992.1:c.428delA
  • NM_001407993.1:c.428delA
  • NM_001408392.1:c.428delA
  • NM_001408396.1:c.428delA
  • NM_001408397.1:c.428delA
  • NM_001408398.1:c.428delA
  • NM_001408399.1:c.428delA
  • NM_001408400.1:c.428delA
  • NM_001408401.1:c.428delA
  • NM_001408402.1:c.428delA
  • NM_001408403.1:c.428delA
  • NM_001408404.1:c.428delA
  • NM_001408406.1:c.428delA
  • NM_001408407.1:c.428delA
  • NM_001408408.1:c.419delA
  • NM_001408409.1:c.350delA
  • NM_001408410.1:c.287delA
  • NM_001408411.1:c.350delA
  • NM_001408412.1:c.350delA
  • NM_001408413.1:c.350delA
  • NM_001408414.1:c.350delA
  • NM_001408415.1:c.350delA
  • NM_001408416.1:c.350delA
  • NM_001408418.1:c.428delA
  • NM_001408419.1:c.428delA
  • NM_001408420.1:c.428delA
  • NM_001408421.1:c.428delA
  • NM_001408422.1:c.428delA
  • NM_001408423.1:c.428delA
  • NM_001408424.1:c.428delA
  • NM_001408425.1:c.428delA
  • NM_001408426.1:c.428delA
  • NM_001408427.1:c.428delA
  • NM_001408428.1:c.428delA
  • NM_001408429.1:c.428delA
  • NM_001408430.1:c.428delA
  • NM_001408431.1:c.428delA
  • NM_001408432.1:c.428delA
  • NM_001408433.1:c.428delA
  • NM_001408434.1:c.428delA
  • NM_001408435.1:c.428delA
  • NM_001408436.1:c.428delA
  • NM_001408437.1:c.428delA
  • NM_001408438.1:c.428delA
  • NM_001408439.1:c.428delA
  • NM_001408440.1:c.428delA
  • NM_001408441.1:c.428delA
  • NM_001408442.1:c.428delA
  • NM_001408443.1:c.428delA
  • NM_001408444.1:c.428delA
  • NM_001408445.1:c.428delA
  • NM_001408446.1:c.428delA
  • NM_001408447.1:c.428delA
  • NM_001408448.1:c.428delA
  • NM_001408450.1:c.428delA
  • NM_001408451.1:c.296delA
  • NM_001408452.1:c.287delA
  • NM_001408453.1:c.287delA
  • NM_001408454.1:c.287delA
  • NM_001408455.1:c.287delA
  • NM_001408456.1:c.287delA
  • NM_001408457.1:c.287delA
  • NM_001408458.1:c.287delA
  • NM_001408459.1:c.287delA
  • NM_001408460.1:c.287delA
  • NM_001408461.1:c.287delA
  • NM_001408462.1:c.287delA
  • NM_001408463.1:c.287delA
  • NM_001408464.1:c.287delA
  • NM_001408465.1:c.287delA
  • NM_001408466.1:c.287delA
  • NM_001408467.1:c.287delA
  • NM_001408468.1:c.287delA
  • NM_001408469.1:c.287delA
  • NM_001408470.1:c.287delA
  • NM_001408472.1:c.428delA
  • NM_001408473.1:c.428delA
  • NM_001408474.1:c.350delA
  • NM_001408475.1:c.350delA
  • NM_001408476.1:c.350delA
  • NM_001408478.1:c.218delA
  • NM_001408479.1:c.218delA
  • NM_001408480.1:c.218delA
  • NM_001408481.1:c.218delA
  • NM_001408482.1:c.218delA
  • NM_001408483.1:c.218delA
  • NM_001408484.1:c.218delA
  • NM_001408485.1:c.218delA
  • NM_001408489.1:c.218delA
  • NM_001408490.1:c.218delA
  • NM_001408491.1:c.218delA
  • NM_001408492.1:c.218delA
  • NM_001408493.1:c.218delA
  • NM_001408494.1:c.428delA
  • NM_001408495.1:c.428delA
  • NM_001408496.1:c.287delA
  • NM_001408497.1:c.287delA
  • NM_001408498.1:c.287delA
  • NM_001408499.1:c.287delA
  • NM_001408500.1:c.287delA
  • NM_001408501.1:c.287delA
  • NM_001408502.1:c.218delA
  • NM_001408503.1:c.287delA
  • NM_001408504.1:c.287delA
  • NM_001408505.1:c.287delA
  • NM_001408506.1:c.218delA
  • NM_001408507.1:c.218delA
  • NM_001408508.1:c.218delA
  • NM_001408509.1:c.218delA
  • NM_001408510.1:c.47delA
  • NM_001408511.1:c.287delA
  • NM_001408512.1:c.47delA
  • NM_001408513.1:c.218delA
  • NM_001408514.1:c.218delA
  • NM_007294.4:c.431delMANE SELECT
  • NM_007297.4:c.290del
  • NM_007298.4:c.428delA
  • NM_007299.4:c.431del
  • NM_007300.4:c.431del
  • NM_007304.2:c.428delA
  • NP_001394500.1:p.Asn74Ilefs
  • NP_001394510.1:p.Asn144Ilefs
  • NP_001394511.1:p.Asn144Ilefs
  • NP_001394512.1:p.Asn144Ilefs
  • NP_001394514.1:p.Asn144Ilefs
  • NP_001394516.1:p.Asn144Ilefs
  • NP_001394519.1:p.Asn144Ilefs
  • NP_001394520.1:p.Asn144Ilefs
  • NP_001394522.1:p.Asn144Ilefs
  • NP_001394523.1:p.Asn144Ilefs
  • NP_001394525.1:p.Asn144Ilefs
  • NP_001394526.1:p.Asn144Ilefs
  • NP_001394527.1:p.Asn144Ilefs
  • NP_001394531.1:p.Asn144Ilefs
  • NP_001394532.1:p.Asn144Ilefs
  • NP_001394534.1:p.Asn144Ilefs
  • NP_001394539.1:p.Asn144Ilefs
  • NP_001394540.1:p.Asn144Ilefs
  • NP_001394541.1:p.Asn144Ilefs
  • NP_001394542.1:p.Asn144Ilefs
  • NP_001394543.1:p.Asn144Ilefs
  • NP_001394544.1:p.Asn144Ilefs
  • NP_001394545.1:p.Asn144Ilefs
  • NP_001394546.1:p.Asn144Ilefs
  • NP_001394547.1:p.Asn144Ilefs
  • NP_001394548.1:p.Asn144Ilefs
  • NP_001394549.1:p.Asn144Ilefs
  • NP_001394550.1:p.Asn144Ilefs
  • NP_001394551.1:p.Asn144Ilefs
  • NP_001394552.1:p.Asn144Ilefs
  • NP_001394553.1:p.Asn144Ilefs
  • NP_001394554.1:p.Asn144Ilefs
  • NP_001394555.1:p.Asn144Ilefs
  • NP_001394556.1:p.Asn144Ilefs
  • NP_001394557.1:p.Asn144Ilefs
  • NP_001394558.1:p.Asn144Ilefs
  • NP_001394559.1:p.Asn144Ilefs
  • NP_001394560.1:p.Asn144Ilefs
  • NP_001394561.1:p.Asn144Ilefs
  • NP_001394562.1:p.Asn144Ilefs
  • NP_001394563.1:p.Asn144Ilefs
  • NP_001394564.1:p.Asn144Ilefs
  • NP_001394565.1:p.Asn144Ilefs
  • NP_001394566.1:p.Asn144Ilefs
  • NP_001394567.1:p.Asn144Ilefs
  • NP_001394568.1:p.Asn144Ilefs
  • NP_001394569.1:p.Asn144Ilefs
  • NP_001394570.1:p.Asn144Ilefs
  • NP_001394571.1:p.Asn144Ilefs
  • NP_001394573.1:p.Asn144Ilefs
  • NP_001394574.1:p.Asn144Ilefs
  • NP_001394575.1:p.Asn141Ilefs
  • NP_001394576.1:p.Asn141Ilefs
  • NP_001394577.1:p.Asn144Ilefs
  • NP_001394578.1:p.Asn144Ilefs
  • NP_001394581.1:p.Asn144Ilefs
  • NP_001394582.1:p.Asn118Ilefs
  • NP_001394583.1:p.Asn118Ilefs
  • NP_001394584.1:p.Asn118Ilefs
  • NP_001394585.1:p.Asn118Ilefs
  • NP_001394586.1:p.Asn118Ilefs
  • NP_001394587.1:p.Asn118Ilefs
  • NP_001394588.1:p.Asn118Ilefs
  • NP_001394589.1:p.Asn118Ilefs
  • NP_001394590.1:p.Asn118Ilefs
  • NP_001394591.1:p.Asn118Ilefs
  • NP_001394592.1:p.Asn118Ilefs
  • NP_001394593.1:p.Asn144Ilefs
  • NP_001394594.1:p.Asn144Ilefs
  • NP_001394595.1:p.Asn144Ilefs
  • NP_001394596.1:p.Asn144Ilefs
  • NP_001394597.1:p.Asn144Ilefs
  • NP_001394598.1:p.Asn144Ilefs
  • NP_001394599.1:p.Asn144Ilefs
  • NP_001394600.1:p.Asn144Ilefs
  • NP_001394601.1:p.Asn144Ilefs
  • NP_001394602.1:p.Asn144Ilefs
  • NP_001394603.1:p.Asn144Ilefs
  • NP_001394604.1:p.Asn144Ilefs
  • NP_001394605.1:p.Asn144Ilefs
  • NP_001394606.1:p.Asn144Ilefs
  • NP_001394607.1:p.Asn144Ilefs
  • NP_001394608.1:p.Asn144Ilefs
  • NP_001394609.1:p.Asn144Ilefs
  • NP_001394610.1:p.Asn144Ilefs
  • NP_001394611.1:p.Asn144Ilefs
  • NP_001394612.1:p.Asn144Ilefs
  • NP_001394613.1:p.Asn144Ilefs
  • NP_001394614.1:p.Asn144Ilefs
  • NP_001394615.1:p.Asn144Ilefs
  • NP_001394616.1:p.Asn144Ilefs
  • NP_001394617.1:p.Asn144Ilefs
  • NP_001394618.1:p.Asn144Ilefs
  • NP_001394619.1:p.Asn144Ilefs
  • NP_001394620.1:p.Asn144Ilefs
  • NP_001394621.1:p.Asn97Ilefs
  • NP_001394623.1:p.Asn97Ilefs
  • NP_001394624.1:p.Asn97Ilefs
  • NP_001394625.1:p.Asn97Ilefs
  • NP_001394626.1:p.Asn97Ilefs
  • NP_001394627.1:p.Asn97Ilefs
  • NP_001394653.1:p.Asn97Ilefs
  • NP_001394654.1:p.Asn97Ilefs
  • NP_001394655.1:p.Asn97Ilefs
  • NP_001394656.1:p.Asn97Ilefs
  • NP_001394657.1:p.Asn97Ilefs
  • NP_001394658.1:p.Asn97Ilefs
  • NP_001394659.1:p.Asn97Ilefs
  • NP_001394660.1:p.Asn97Ilefs
  • NP_001394661.1:p.Asn97Ilefs
  • NP_001394662.1:p.Asn97Ilefs
  • NP_001394663.1:p.Asn97Ilefs
  • NP_001394664.1:p.Asn97Ilefs
  • NP_001394665.1:p.Asn97Ilefs
  • NP_001394666.1:p.Asn97Ilefs
  • NP_001394667.1:p.Asn97Ilefs
  • NP_001394668.1:p.Asn97Ilefs
  • NP_001394669.1:p.Asn97Ilefs
  • NP_001394670.1:p.Asn97Ilefs
  • NP_001394671.1:p.Asn97Ilefs
  • NP_001394672.1:p.Asn97Ilefs
  • NP_001394673.1:p.Asn97Ilefs
  • NP_001394674.1:p.Asn97Ilefs
  • NP_001394675.1:p.Asn97Ilefs
  • NP_001394676.1:p.Asn97Ilefs
  • NP_001394677.1:p.Asn97Ilefs
  • NP_001394678.1:p.Asn97Ilefs
  • NP_001394679.1:p.Asn97Ilefs
  • NP_001394680.1:p.Asn97Ilefs
  • NP_001394681.1:p.Asn97Ilefs
  • NP_001394767.1:p.Asn97Ilefs
  • NP_001394768.1:p.Asn97Ilefs
  • NP_001394770.1:p.Asn97Ilefs
  • NP_001394771.1:p.Asn97Ilefs
  • NP_001394772.1:p.Asn97Ilefs
  • NP_001394773.1:p.Asn97Ilefs
  • NP_001394774.1:p.Asn97Ilefs
  • NP_001394775.1:p.Asn97Ilefs
  • NP_001394776.1:p.Asn97Ilefs
  • NP_001394777.1:p.Asn97Ilefs
  • NP_001394778.1:p.Asn97Ilefs
  • NP_001394779.1:p.Asn97Ilefs
  • NP_001394780.1:p.Asn97Ilefs
  • NP_001394781.1:p.Asn97Ilefs
  • NP_001394782.1:p.Asn74Ilefs
  • NP_001394783.1:p.Asn144Ilefs
  • NP_001394787.1:p.Asn144Ilefs
  • NP_001394788.1:p.Asn144Ilefs
  • NP_001394789.1:p.Asn144Ilefs
  • NP_001394790.1:p.Asn144Ilefs
  • NP_001394791.1:p.Asn118Ilefs
  • NP_001394792.1:p.Asn144Ilefs
  • NP_001394803.1:p.Asn118Ilefs
  • NP_001394804.1:p.Asn118Ilefs
  • NP_001394808.1:p.Asn74Ilefs
  • NP_001394810.1:p.Asn74Ilefs
  • NP_001394811.1:p.Asn74Ilefs
  • NP_001394813.1:p.Asn74Ilefs
  • NP_001394814.1:p.Asn74Ilefs
  • NP_001394815.1:p.Asn74Ilefs
  • NP_001394816.1:p.Asn74Ilefs
  • NP_001394818.1:p.Asn74Ilefs
  • NP_001394823.1:p.Asn74Ilefs
  • NP_001394824.1:p.Asn74Ilefs
  • NP_001394825.1:p.Asn74Ilefs
  • NP_001394826.1:p.Asn74Ilefs
  • NP_001394827.1:p.Asn74Ilefs
  • NP_001394828.1:p.Asn74Ilefs
  • NP_001394829.1:p.Asn74Ilefs
  • NP_001394831.1:p.Asn74Ilefs
  • NP_001394833.1:p.Asn74Ilefs
  • NP_001394835.1:p.Asn74Ilefs
  • NP_001394836.1:p.Asn74Ilefs
  • NP_001394837.1:p.Asn74Ilefs
  • NP_001394838.1:p.Asn74Ilefs
  • NP_001394839.1:p.Asn74Ilefs
  • NP_001394844.1:p.Asn74Ilefs
  • NP_001394845.1:p.Asn74Ilefs
  • NP_001394846.1:p.Asn74Ilefs
  • NP_001394847.1:p.Asn74Ilefs
  • NP_001394848.1:p.Asn144Ilefs
  • NP_001394849.1:p.Asn97Ilefs
  • NP_001394850.1:p.Asn97Ilefs
  • NP_001394851.1:p.Asn97Ilefs
  • NP_001394852.1:p.Asn97Ilefs
  • NP_001394853.1:p.Asn97Ilefs
  • NP_001394854.1:p.Asn97Ilefs
  • NP_001394855.1:p.Asn97Ilefs
  • NP_001394856.1:p.Asn97Ilefs
  • NP_001394857.1:p.Asn97Ilefs
  • NP_001394858.1:p.Asn97Ilefs
  • NP_001394859.1:p.Asn97Ilefs
  • NP_001394860.1:p.Asn97Ilefs
  • NP_001394861.1:p.Asn97Ilefs
  • NP_001394862.1:p.Asn97Ilefs
  • NP_001394863.1:p.Asn97Ilefs
  • NP_001394864.1:p.Asn97Ilefs
  • NP_001394865.1:p.Asn97Ilefs
  • NP_001394866.1:p.Asn144Ilefs
  • NP_001394867.1:p.Asn144Ilefs
  • NP_001394868.1:p.Asn144Ilefs
  • NP_001394869.1:p.Asn144Ilefs
  • NP_001394870.1:p.Asn144Ilefs
  • NP_001394871.1:p.Asn97Ilefs
  • NP_001394872.1:p.Asn97Ilefs
  • NP_001394873.1:p.Asn97Ilefs
  • NP_001394874.1:p.Asn97Ilefs
  • NP_001394875.1:p.Asn74Ilefs
  • NP_001394876.1:p.Asn74Ilefs
  • NP_001394877.1:p.Asn74Ilefs
  • NP_001394878.1:p.Asn74Ilefs
  • NP_001394879.1:p.Asn74Ilefs
  • NP_001394880.1:p.Asn74Ilefs
  • NP_001394881.1:p.Asn74Ilefs
  • NP_001394882.1:p.Asn74Ilefs
  • NP_001394883.1:p.Asn74Ilefs
  • NP_001394884.1:p.Asn74Ilefs
  • NP_001394885.1:p.Asn74Ilefs
  • NP_001394886.1:p.Asn74Ilefs
  • NP_001394887.1:p.Asn74Ilefs
  • NP_001394888.1:p.Asn17Ilefs
  • NP_001394889.1:p.Asn17Ilefs
  • NP_001394891.1:p.Asn17Ilefs
  • NP_001394892.1:p.Asn17Ilefs
  • NP_001394893.1:p.Asn97Ilefs
  • NP_001394894.1:p.Asn17Ilefs
  • NP_001394897.1:p.Asn144Ilefs
  • NP_001394898.1:p.Asn144Ilefs
  • NP_001394899.1:p.Asn144Ilefs
  • NP_001394900.1:p.Asn144Ilefs
  • NP_001394901.1:p.Asn144Ilefs
  • NP_001394902.1:p.Asn144Ilefs
  • NP_001394903.1:p.Asn144Ilefs
  • NP_001394904.1:p.Asn144Ilefs
  • NP_001394905.1:p.Asn144Ilefs
  • NP_001394906.1:p.Asn144Ilefs
  • NP_001394907.1:p.Asn144Ilefs
  • NP_001394908.1:p.Asn144Ilefs
  • NP_001394909.1:p.Asn144Ilefs
  • NP_001394910.1:p.Asn144Ilefs
  • NP_001394911.1:p.Asn144Ilefs
  • NP_001394912.1:p.Asn144Ilefs
  • NP_001394913.1:p.Asn144Ilefs
  • NP_001394914.1:p.Asn144Ilefs
  • NP_001394915.1:p.Asn144Ilefs
  • NP_001394919.1:p.Asn144Ilefs
  • NP_001394920.1:p.Asn144Ilefs
  • NP_001394921.1:p.Asn144Ilefs
  • NP_001394922.1:p.Asn144Ilefs
  • NP_001395321.1:p.Asn144Ilefs
  • NP_001395325.1:p.Asn144Ilefs
  • NP_001395326.1:p.Asn144Ilefs
  • NP_001395327.1:p.Asn144Ilefs
  • NP_001395328.1:p.Asn144Ilefs
  • NP_001395329.1:p.Asn144Ilefs
  • NP_001395330.1:p.Asn144Ilefs
  • NP_001395331.1:p.Asn144Ilefs
  • NP_001395332.1:p.Asn144Ilefs
  • NP_001395333.1:p.Asn144Ilefs
  • NP_001395335.1:p.Asn144Ilefs
  • NP_001395336.1:p.Asn144Ilefs
  • NP_001395337.1:p.Asn141Ilefs
  • NP_001395338.1:p.Asn118Ilefs
  • NP_001395339.1:p.Asn97Ilefs
  • NP_001395340.1:p.Asn118Ilefs
  • NP_001395341.1:p.Asn118Ilefs
  • NP_001395342.1:p.Asn118Ilefs
  • NP_001395343.1:p.Asn118Ilefs
  • NP_001395344.1:p.Asn118Ilefs
  • NP_001395345.1:p.Asn118Ilefs
  • NP_001395347.1:p.Asn144Ilefs
  • NP_001395348.1:p.Asn144Ilefs
  • NP_001395349.1:p.Asn144Ilefs
  • NP_001395350.1:p.Asn144Ilefs
  • NP_001395351.1:p.Asn144Ilefs
  • NP_001395352.1:p.Asn144Ilefs
  • NP_001395353.1:p.Asn144Ilefs
  • NP_001395354.1:p.Asn144Ilefs
  • NP_001395355.1:p.Asn144Ilefs
  • NP_001395356.1:p.Asn144Ilefs
  • NP_001395357.1:p.Asn144Ilefs
  • NP_001395358.1:p.Asn144Ilefs
  • NP_001395359.1:p.Asn144Ilefs
  • NP_001395360.1:p.Asn144Ilefs
  • NP_001395361.1:p.Asn144Ilefs
  • NP_001395362.1:p.Asn144Ilefs
  • NP_001395363.1:p.Asn144Ilefs
  • NP_001395364.1:p.Asn144Ilefs
  • NP_001395365.1:p.Asn144Ilefs
  • NP_001395366.1:p.Asn144Ilefs
  • NP_001395367.1:p.Asn144Ilefs
  • NP_001395368.1:p.Asn144Ilefs
  • NP_001395369.1:p.Asn144Ilefs
  • NP_001395370.1:p.Asn144Ilefs
  • NP_001395371.1:p.Asn144Ilefs
  • NP_001395372.1:p.Asn144Ilefs
  • NP_001395373.1:p.Asn144Ilefs
  • NP_001395374.1:p.Asn144Ilefs
  • NP_001395375.1:p.Asn144Ilefs
  • NP_001395376.1:p.Asn144Ilefs
  • NP_001395377.1:p.Asn144Ilefs
  • NP_001395379.1:p.Asn144Ilefs
  • NP_001395380.1:p.Asn100Ilefs
  • NP_001395381.1:p.Asn97Ilefs
  • NP_001395382.1:p.Asn97Ilefs
  • NP_001395383.1:p.Asn97Ilefs
  • NP_001395384.1:p.Asn97Ilefs
  • NP_001395385.1:p.Asn97Ilefs
  • NP_001395386.1:p.Asn97Ilefs
  • NP_001395387.1:p.Asn97Ilefs
  • NP_001395388.1:p.Asn97Ilefs
  • NP_001395389.1:p.Asn97Ilefs
  • NP_001395390.1:p.Asn97Ilefs
  • NP_001395391.1:p.Asn97Ilefs
  • NP_001395392.1:p.Asn97Ilefs
  • NP_001395393.1:p.Asn97Ilefs
  • NP_001395394.1:p.Asn97Ilefs
  • NP_001395395.1:p.Asn97Ilefs
  • NP_001395396.1:p.Asn97Ilefs
  • NP_001395397.1:p.Asn97Ilefs
  • NP_001395398.1:p.Asn97Ilefs
  • NP_001395399.1:p.Asn97Ilefs
  • NP_001395401.1:p.Asn144Ilefs
  • NP_001395402.1:p.Asn144Ilefs
  • NP_001395403.1:p.Asn118Ilefs
  • NP_001395404.1:p.Asn118Ilefs
  • NP_001395405.1:p.Asn118Ilefs
  • NP_001395407.1:p.Asn74Ilefs
  • NP_001395408.1:p.Asn74Ilefs
  • NP_001395409.1:p.Asn74Ilefs
  • NP_001395410.1:p.Asn74Ilefs
  • NP_001395411.1:p.Asn74Ilefs
  • NP_001395412.1:p.Asn74Ilefs
  • NP_001395413.1:p.Asn74Ilefs
  • NP_001395414.1:p.Asn74Ilefs
  • NP_001395418.1:p.Asn74Ilefs
  • NP_001395419.1:p.Asn74Ilefs
  • NP_001395420.1:p.Asn74Ilefs
  • NP_001395421.1:p.Asn74Ilefs
  • NP_001395422.1:p.Asn74Ilefs
  • NP_001395423.1:p.Asn144Ilefs
  • NP_001395424.1:p.Asn144Ilefs
  • NP_001395425.1:p.Asn97Ilefs
  • NP_001395426.1:p.Asn97Ilefs
  • NP_001395427.1:p.Asn97Ilefs
  • NP_001395428.1:p.Asn97Ilefs
  • NP_001395429.1:p.Asn97Ilefs
  • NP_001395430.1:p.Asn97Ilefs
  • NP_001395431.1:p.Asn74Ilefs
  • NP_001395432.1:p.Asn97Ilefs
  • NP_001395433.1:p.Asn97Ilefs
  • NP_001395434.1:p.Asn97Ilefs
  • NP_001395435.1:p.Asn74Ilefs
  • NP_001395436.1:p.Asn74Ilefs
  • NP_001395437.1:p.Asn74Ilefs
  • NP_001395438.1:p.Asn74Ilefs
  • NP_001395439.1:p.Asn17Ilefs
  • NP_001395440.1:p.Asn97Ilefs
  • NP_001395441.1:p.Asn17Ilefs
  • NP_001395442.1:p.Asn74Ilefs
  • NP_001395443.1:p.Asn74Ilefs
  • NP_009225.1:p.Asn144Ilefs
  • NP_009225.1:p.Asn144fs
  • NP_009228.2:p.Asn97fs
  • NP_009229.2:p.Asn144Ilefs
  • NP_009229.2:p.Asn144fs
  • NP_009230.2:p.Asn144fs
  • NP_009231.2:p.Asn144fs
  • NP_009235.2:p.Asn144Ilefs
  • LRG_292t1:c.428del
  • LRG_292:g.113852del
  • LRG_292p1:p.Asn144Ilefs
  • NC_000017.10:g.41256149del
  • NC_000017.10:g.41256152del
  • NM_007294.3:c.428delA
  • NM_007294.3:c.431delA
  • NM_007298.3:c.431del
  • NR_027676.2:n.611del
  • p.Asn144fs
Protein change:
N144fs
Links:
dbSNP: rs397509162
NCBI 1000 Genomes Browser:
rs397509162
Molecular consequence:
  • NM_001407571.1:c.218delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407581.1:c.428delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407582.1:c.428delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407583.1:c.428delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407585.1:c.428delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407587.1:c.428delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407590.1:c.428delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407591.1:c.428delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407593.1:c.428delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407594.1:c.428delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407596.1:c.428delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407597.1:c.428delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407598.1:c.428delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407602.1:c.428delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407603.1:c.428delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407605.1:c.428delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407610.1:c.428delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407611.1:c.428delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407612.1:c.428delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407613.1:c.428delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407614.1:c.428delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407615.1:c.428delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407616.1:c.428delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407617.1:c.428delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407618.1:c.428delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407619.1:c.428delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407620.1:c.428delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407621.1:c.428delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407622.1:c.428delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407623.1:c.428delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407624.1:c.428delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407625.1:c.428delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407626.1:c.428delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407627.1:c.428delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407628.1:c.428delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407629.1:c.428delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407630.1:c.428delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407631.1:c.428delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407632.1:c.428delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407633.1:c.428delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407634.1:c.428delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407635.1:c.428delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407636.1:c.428delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407637.1:c.428delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407638.1:c.428delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407639.1:c.428delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407640.1:c.428delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407641.1:c.428delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407642.1:c.428delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407644.1:c.428delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407645.1:c.428delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407646.1:c.419delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407647.1:c.419delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407648.1:c.428delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407649.1:c.428delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407652.1:c.428delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407653.1:c.350delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407654.1:c.350delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407655.1:c.350delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407656.1:c.350delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407657.1:c.350delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407658.1:c.350delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407659.1:c.350delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407660.1:c.350delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407661.1:c.350delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407662.1:c.350delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407663.1:c.350delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407664.1:c.428delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407665.1:c.428delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407666.1:c.428delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407667.1:c.428delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407668.1:c.428delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407669.1:c.428delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407670.1:c.428delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407671.1:c.428delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407672.1:c.428delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407673.1:c.428delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407674.1:c.428delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407675.1:c.428delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407676.1:c.428delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407677.1:c.428delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407678.1:c.428delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407679.1:c.428delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407680.1:c.428delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407681.1:c.428delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407682.1:c.428delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407683.1:c.428delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407684.1:c.428delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407685.1:c.428delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407686.1:c.428delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407687.1:c.428delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407688.1:c.428delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407689.1:c.428delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407690.1:c.428delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407691.1:c.428delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407692.1:c.287delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407694.1:c.287delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407695.1:c.287delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407696.1:c.287delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407697.1:c.287delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407698.1:c.287delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407724.1:c.287delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407725.1:c.287delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407726.1:c.287delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407727.1:c.287delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407728.1:c.287delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407729.1:c.287delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407730.1:c.287delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407731.1:c.287delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407732.1:c.287delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407733.1:c.287delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407734.1:c.287delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407735.1:c.287delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407736.1:c.287delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407737.1:c.287delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407738.1:c.287delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407739.1:c.287delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407740.1:c.287delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407741.1:c.287delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407742.1:c.287delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407743.1:c.287delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407744.1:c.287delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407745.1:c.287delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407746.1:c.287delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407747.1:c.287delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407748.1:c.287delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407749.1:c.287delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407750.1:c.287delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407751.1:c.287delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407752.1:c.287delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407838.1:c.287delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407839.1:c.287delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407841.1:c.287delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407842.1:c.287delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407843.1:c.287delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407844.1:c.287delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407845.1:c.287delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407846.1:c.287delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407847.1:c.287delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407848.1:c.287delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407849.1:c.287delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407850.1:c.287delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407851.1:c.287delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407852.1:c.287delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407853.1:c.218delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407854.1:c.428delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407858.1:c.428delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407859.1:c.428delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407860.1:c.428delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407861.1:c.428delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407862.1:c.350delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407863.1:c.428delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407874.1:c.350delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407875.1:c.350delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407879.1:c.218delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407881.1:c.218delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407882.1:c.218delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407884.1:c.218delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407885.1:c.218delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407886.1:c.218delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407887.1:c.218delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407889.1:c.218delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407894.1:c.218delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407895.1:c.218delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407896.1:c.218delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407897.1:c.218delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407898.1:c.218delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407899.1:c.218delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407900.1:c.218delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407902.1:c.218delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407904.1:c.218delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407906.1:c.218delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407907.1:c.218delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407908.1:c.218delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407909.1:c.218delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407910.1:c.218delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407915.1:c.218delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407916.1:c.218delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407917.1:c.218delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407918.1:c.218delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407919.1:c.428delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407920.1:c.287delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407921.1:c.287delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407922.1:c.287delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407923.1:c.287delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407924.1:c.287delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407925.1:c.287delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407926.1:c.287delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407927.1:c.287delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407928.1:c.287delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407929.1:c.287delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407930.1:c.287delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407931.1:c.287delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407932.1:c.287delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407933.1:c.287delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407934.1:c.287delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407935.1:c.287delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407936.1:c.287delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407937.1:c.428delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407938.1:c.428delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407939.1:c.428delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407940.1:c.428delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407941.1:c.428delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407942.1:c.287delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407943.1:c.287delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407944.1:c.287delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407945.1:c.287delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407946.1:c.218delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407947.1:c.218delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407948.1:c.218delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407949.1:c.218delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407950.1:c.218delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407951.1:c.218delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407952.1:c.218delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407953.1:c.218delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407954.1:c.218delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407955.1:c.218delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407956.1:c.218delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407957.1:c.218delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407958.1:c.218delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407959.1:c.47delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407960.1:c.47delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407962.1:c.47delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407963.1:c.47delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407964.1:c.287delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407965.1:c.47delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407968.1:c.428delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407969.1:c.428delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407970.1:c.428delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407971.1:c.428delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407972.1:c.428delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407973.1:c.428delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407974.1:c.428delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407975.1:c.428delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407976.1:c.428delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407977.1:c.428delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407978.1:c.428delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407979.1:c.428delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407980.1:c.428delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407981.1:c.428delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407982.1:c.428delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407983.1:c.428delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407984.1:c.428delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407985.1:c.428delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407986.1:c.428delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407990.1:c.428delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407991.1:c.428delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407992.1:c.428delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407993.1:c.428delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408392.1:c.428delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408396.1:c.428delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408397.1:c.428delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408398.1:c.428delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408399.1:c.428delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408400.1:c.428delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408401.1:c.428delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408402.1:c.428delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408403.1:c.428delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408404.1:c.428delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408406.1:c.428delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408407.1:c.428delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408408.1:c.419delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408409.1:c.350delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408410.1:c.287delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408411.1:c.350delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408412.1:c.350delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408413.1:c.350delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408414.1:c.350delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408415.1:c.350delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408416.1:c.350delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408418.1:c.428delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408419.1:c.428delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408420.1:c.428delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408421.1:c.428delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408422.1:c.428delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408423.1:c.428delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408424.1:c.428delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408425.1:c.428delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408426.1:c.428delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408427.1:c.428delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408428.1:c.428delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408429.1:c.428delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408430.1:c.428delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408431.1:c.428delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408432.1:c.428delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408433.1:c.428delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408434.1:c.428delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408435.1:c.428delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408436.1:c.428delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408437.1:c.428delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408438.1:c.428delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408439.1:c.428delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408440.1:c.428delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408441.1:c.428delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408442.1:c.428delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408443.1:c.428delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408444.1:c.428delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408445.1:c.428delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408446.1:c.428delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408447.1:c.428delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408448.1:c.428delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408450.1:c.428delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408451.1:c.296delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408452.1:c.287delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408453.1:c.287delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408454.1:c.287delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408455.1:c.287delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408456.1:c.287delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408457.1:c.287delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408458.1:c.287delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408459.1:c.287delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408460.1:c.287delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408461.1:c.287delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408462.1:c.287delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408463.1:c.287delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408464.1:c.287delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408465.1:c.287delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408466.1:c.287delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408467.1:c.287delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408468.1:c.287delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408469.1:c.287delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408470.1:c.287delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408472.1:c.428delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408473.1:c.428delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408474.1:c.350delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408475.1:c.350delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408476.1:c.350delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408478.1:c.218delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408479.1:c.218delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408480.1:c.218delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408481.1:c.218delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408482.1:c.218delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408483.1:c.218delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408484.1:c.218delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408485.1:c.218delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408489.1:c.218delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408490.1:c.218delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408491.1:c.218delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408492.1:c.218delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408493.1:c.218delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408494.1:c.428delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408495.1:c.428delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408496.1:c.287delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408497.1:c.287delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408498.1:c.287delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408499.1:c.287delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408500.1:c.287delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408501.1:c.287delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408502.1:c.218delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408503.1:c.287delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408504.1:c.287delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408505.1:c.287delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408506.1:c.218delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408507.1:c.218delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408508.1:c.218delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408509.1:c.218delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408510.1:c.47delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408511.1:c.287delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408512.1:c.47delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408513.1:c.218delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408514.1:c.218delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_007294.4:c.431del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_007297.4:c.290del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_007298.4:c.428delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_007299.4:c.431del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_007300.4:c.431del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_007304.2:c.428delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NR_027676.2:n.611del - 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

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004361116Color Diagnostics, LLC DBA Color Health
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(Jul 22, 2021) 		germlineclinical testing

PubMed (3)
[See all records that cite these PMIDs]

Help

Summary from all submissions

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

Citations

PubMed

Prevalence of BRCA1 and BRCA2 mutations in Pakistani breast and ovarian cancer patients.

Rashid MU, Zaidi A, Torres D, Sultan F, Benner A, Naqvi B, Shakoori AR, Seidel-Renkert A, Farooq H, Narod S, Amin A, Hamann U.

Int J Cancer. 2006 Dec 15;119(12):2832-9.

PubMed [citation]
PMID:
16998791

Detection of false positive mutations in BRCA gene by next generation sequencing.

Suryavanshi M, Kumar D, Panigrahi MK, Chowdhary M, Mehta A.

Fam Cancer. 2017 Jul;16(3):311-317. doi: 10.1007/s10689-016-9955-8.

PubMed [citation]
PMID:
27848044
See all PubMed Citations (3)

Details of each submission

From Color Diagnostics, LLC DBA Color Health, SCV004361116.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (3)

Description

This variant deletes 1 nucleotide in exon 6 of the BRCA1 gene, creating a frameshift and premature translation stop signal. This variant is expected to result in an absent or non-functional protein product. To our knowledge, functional studies have not been reported for this variant. This variant has been reported in at least two individuals affected with breast or ovarian cancer (PMID: 16998791, 27848044). This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). Loss of BRCA1 function is a known mechanism of disease (clinicalgenome.org). Based on the available evidence, this variant is classified as Pathogenic.

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

Last Updated: Oct 26, 2024