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NM_007294.4(BRCA1):c.411dup (p.Leu138fs) AND not provided

Germline classification:
Pathogenic/Likely pathogenic (2 submissions)
Last evaluated:
Apr 10, 2023
Review status:
2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000657279.11

Allele description [Variation Report for NM_007294.4(BRCA1):c.411dup (p.Leu138fs)]

NM_007294.4(BRCA1):c.411dup (p.Leu138fs)

Gene:
BRCA1:BRCA1 DNA repair associated [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
17q21.31
Genomic location:
Preferred name:
NM_007294.4(BRCA1):c.411dup (p.Leu138fs)
HGVS:
  • NC_000017.11:g.43104153dup
  • NG_005905.2:g.113832dup
  • NM_001407571.1:c.200dup
  • NM_001407581.1:c.410dup
  • NM_001407582.1:c.410dup
  • NM_001407583.1:c.410dup
  • NM_001407585.1:c.410dup
  • NM_001407587.1:c.410dup
  • NM_001407590.1:c.410dup
  • NM_001407591.1:c.410dup
  • NM_001407593.1:c.410dup
  • NM_001407594.1:c.410dup
  • NM_001407596.1:c.410dup
  • NM_001407597.1:c.410dup
  • NM_001407598.1:c.410dup
  • NM_001407602.1:c.410dup
  • NM_001407603.1:c.410dup
  • NM_001407605.1:c.410dup
  • NM_001407610.1:c.410dup
  • NM_001407611.1:c.410dup
  • NM_001407612.1:c.410dup
  • NM_001407613.1:c.410dup
  • NM_001407614.1:c.410dup
  • NM_001407615.1:c.410dup
  • NM_001407616.1:c.410dup
  • NM_001407617.1:c.410dup
  • NM_001407618.1:c.410dup
  • NM_001407619.1:c.410dup
  • NM_001407620.1:c.410dup
  • NM_001407621.1:c.410dup
  • NM_001407622.1:c.410dup
  • NM_001407623.1:c.410dup
  • NM_001407624.1:c.410dup
  • NM_001407625.1:c.410dup
  • NM_001407626.1:c.410dup
  • NM_001407627.1:c.410dup
  • NM_001407628.1:c.410dup
  • NM_001407629.1:c.410dup
  • NM_001407630.1:c.410dup
  • NM_001407631.1:c.410dup
  • NM_001407632.1:c.410dup
  • NM_001407633.1:c.410dup
  • NM_001407634.1:c.410dup
  • NM_001407635.1:c.410dup
  • NM_001407636.1:c.410dup
  • NM_001407637.1:c.410dup
  • NM_001407638.1:c.410dup
  • NM_001407639.1:c.410dup
  • NM_001407640.1:c.410dup
  • NM_001407641.1:c.410dup
  • NM_001407642.1:c.410dup
  • NM_001407644.1:c.410dup
  • NM_001407645.1:c.410dup
  • NM_001407646.1:c.401dup
  • NM_001407647.1:c.401dup
  • NM_001407648.1:c.410dup
  • NM_001407649.1:c.410dup
  • NM_001407652.1:c.410dup
  • NM_001407653.1:c.332dup
  • NM_001407654.1:c.332dup
  • NM_001407655.1:c.332dup
  • NM_001407656.1:c.332dup
  • NM_001407657.1:c.332dup
  • NM_001407658.1:c.332dup
  • NM_001407659.1:c.332dup
  • NM_001407660.1:c.332dup
  • NM_001407661.1:c.332dup
  • NM_001407662.1:c.332dup
  • NM_001407663.1:c.332dup
  • NM_001407664.1:c.410dup
  • NM_001407665.1:c.410dup
  • NM_001407666.1:c.410dup
  • NM_001407667.1:c.410dup
  • NM_001407668.1:c.410dup
  • NM_001407669.1:c.410dup
  • NM_001407670.1:c.410dup
  • NM_001407671.1:c.410dup
  • NM_001407672.1:c.410dup
  • NM_001407673.1:c.410dup
  • NM_001407674.1:c.410dup
  • NM_001407675.1:c.410dup
  • NM_001407676.1:c.410dup
  • NM_001407677.1:c.410dup
  • NM_001407678.1:c.410dup
  • NM_001407679.1:c.410dup
  • NM_001407680.1:c.410dup
  • NM_001407681.1:c.410dup
  • NM_001407682.1:c.410dup
  • NM_001407683.1:c.410dup
  • NM_001407684.1:c.410dup
  • NM_001407685.1:c.410dup
  • NM_001407686.1:c.410dup
  • NM_001407687.1:c.410dup
  • NM_001407688.1:c.410dup
  • NM_001407689.1:c.410dup
  • NM_001407690.1:c.410dup
  • NM_001407691.1:c.410dup
  • NM_001407692.1:c.269dup
  • NM_001407694.1:c.269dup
  • NM_001407695.1:c.269dup
  • NM_001407696.1:c.269dup
  • NM_001407697.1:c.269dup
  • NM_001407698.1:c.269dup
  • NM_001407724.1:c.269dup
  • NM_001407725.1:c.269dup
  • NM_001407726.1:c.269dup
  • NM_001407727.1:c.269dup
  • NM_001407728.1:c.269dup
  • NM_001407729.1:c.269dup
  • NM_001407730.1:c.269dup
  • NM_001407731.1:c.269dup
  • NM_001407732.1:c.269dup
  • NM_001407733.1:c.269dup
  • NM_001407734.1:c.269dup
  • NM_001407735.1:c.269dup
  • NM_001407736.1:c.269dup
  • NM_001407737.1:c.269dup
  • NM_001407738.1:c.269dup
  • NM_001407739.1:c.269dup
  • NM_001407740.1:c.269dup
  • NM_001407741.1:c.269dup
  • NM_001407742.1:c.269dup
  • NM_001407743.1:c.269dup
  • NM_001407744.1:c.269dup
  • NM_001407745.1:c.269dup
  • NM_001407746.1:c.269dup
  • NM_001407747.1:c.269dup
  • NM_001407748.1:c.269dup
  • NM_001407749.1:c.269dup
  • NM_001407750.1:c.269dup
  • NM_001407751.1:c.269dup
  • NM_001407752.1:c.269dup
  • NM_001407838.1:c.269dup
  • NM_001407839.1:c.269dup
  • NM_001407841.1:c.269dup
  • NM_001407842.1:c.269dup
  • NM_001407843.1:c.269dup
  • NM_001407844.1:c.269dup
  • NM_001407845.1:c.269dup
  • NM_001407846.1:c.269dup
  • NM_001407847.1:c.269dup
  • NM_001407848.1:c.269dup
  • NM_001407849.1:c.269dup
  • NM_001407850.1:c.269dup
  • NM_001407851.1:c.269dup
  • NM_001407852.1:c.269dup
  • NM_001407853.1:c.200dup
  • NM_001407854.1:c.410dup
  • NM_001407858.1:c.410dup
  • NM_001407859.1:c.410dup
  • NM_001407860.1:c.410dup
  • NM_001407861.1:c.410dup
  • NM_001407862.1:c.332dup
  • NM_001407863.1:c.410dup
  • NM_001407874.1:c.332dup
  • NM_001407875.1:c.332dup
  • NM_001407879.1:c.200dup
  • NM_001407881.1:c.200dup
  • NM_001407882.1:c.200dup
  • NM_001407884.1:c.200dup
  • NM_001407885.1:c.200dup
  • NM_001407886.1:c.200dup
  • NM_001407887.1:c.200dup
  • NM_001407889.1:c.200dup
  • NM_001407894.1:c.200dup
  • NM_001407895.1:c.200dup
  • NM_001407896.1:c.200dup
  • NM_001407897.1:c.200dup
  • NM_001407898.1:c.200dup
  • NM_001407899.1:c.200dup
  • NM_001407900.1:c.200dup
  • NM_001407902.1:c.200dup
  • NM_001407904.1:c.200dup
  • NM_001407906.1:c.200dup
  • NM_001407907.1:c.200dup
  • NM_001407908.1:c.200dup
  • NM_001407909.1:c.200dup
  • NM_001407910.1:c.200dup
  • NM_001407915.1:c.200dup
  • NM_001407916.1:c.200dup
  • NM_001407917.1:c.200dup
  • NM_001407918.1:c.200dup
  • NM_001407919.1:c.410dup
  • NM_001407920.1:c.269dup
  • NM_001407921.1:c.269dup
  • NM_001407922.1:c.269dup
  • NM_001407923.1:c.269dup
  • NM_001407924.1:c.269dup
  • NM_001407925.1:c.269dup
  • NM_001407926.1:c.269dup
  • NM_001407927.1:c.269dup
  • NM_001407928.1:c.269dup
  • NM_001407929.1:c.269dup
  • NM_001407930.1:c.269dup
  • NM_001407931.1:c.269dup
  • NM_001407932.1:c.269dup
  • NM_001407933.1:c.269dup
  • NM_001407934.1:c.269dup
  • NM_001407935.1:c.269dup
  • NM_001407936.1:c.269dup
  • NM_001407937.1:c.410dup
  • NM_001407938.1:c.410dup
  • NM_001407939.1:c.410dup
  • NM_001407940.1:c.410dup
  • NM_001407941.1:c.410dup
  • NM_001407942.1:c.269dup
  • NM_001407943.1:c.269dup
  • NM_001407944.1:c.269dup
  • NM_001407945.1:c.269dup
  • NM_001407946.1:c.200dup
  • NM_001407947.1:c.200dup
  • NM_001407948.1:c.200dup
  • NM_001407949.1:c.200dup
  • NM_001407950.1:c.200dup
  • NM_001407951.1:c.200dup
  • NM_001407952.1:c.200dup
  • NM_001407953.1:c.200dup
  • NM_001407954.1:c.200dup
  • NM_001407955.1:c.200dup
  • NM_001407956.1:c.200dup
  • NM_001407957.1:c.200dup
  • NM_001407958.1:c.200dup
  • NM_001407959.1:c.29dup
  • NM_001407960.1:c.29dup
  • NM_001407962.1:c.29dup
  • NM_001407963.1:c.29dup
  • NM_001407964.1:c.269dup
  • NM_001407965.1:c.29dup
  • NM_001407968.1:c.410dup
  • NM_001407969.1:c.410dup
  • NM_001407970.1:c.410dup
  • NM_001407971.1:c.410dup
  • NM_001407972.1:c.410dup
  • NM_001407973.1:c.410dup
  • NM_001407974.1:c.410dup
  • NM_001407975.1:c.410dup
  • NM_001407976.1:c.410dup
  • NM_001407977.1:c.410dup
  • NM_001407978.1:c.410dup
  • NM_001407979.1:c.410dup
  • NM_001407980.1:c.410dup
  • NM_001407981.1:c.410dup
  • NM_001407982.1:c.410dup
  • NM_001407983.1:c.410dup
  • NM_001407984.1:c.410dup
  • NM_001407985.1:c.410dup
  • NM_001407986.1:c.410dup
  • NM_001407990.1:c.410dup
  • NM_001407991.1:c.410dup
  • NM_001407992.1:c.410dup
  • NM_001407993.1:c.410dup
  • NM_001408392.1:c.410dup
  • NM_001408396.1:c.410dup
  • NM_001408397.1:c.410dup
  • NM_001408398.1:c.410dup
  • NM_001408399.1:c.410dup
  • NM_001408400.1:c.410dup
  • NM_001408401.1:c.410dup
  • NM_001408402.1:c.410dup
  • NM_001408403.1:c.410dup
  • NM_001408404.1:c.410dup
  • NM_001408406.1:c.410dup
  • NM_001408407.1:c.410dup
  • NM_001408408.1:c.401dup
  • NM_001408409.1:c.332dup
  • NM_001408410.1:c.269dup
  • NM_001408411.1:c.332dup
  • NM_001408412.1:c.332dup
  • NM_001408413.1:c.332dup
  • NM_001408414.1:c.332dup
  • NM_001408415.1:c.332dup
  • NM_001408416.1:c.332dup
  • NM_001408418.1:c.410dup
  • NM_001408419.1:c.410dup
  • NM_001408420.1:c.410dup
  • NM_001408421.1:c.410dup
  • NM_001408422.1:c.410dup
  • NM_001408423.1:c.410dup
  • NM_001408424.1:c.410dup
  • NM_001408425.1:c.410dup
  • NM_001408426.1:c.410dup
  • NM_001408427.1:c.410dup
  • NM_001408428.1:c.410dup
  • NM_001408429.1:c.410dup
  • NM_001408430.1:c.410dup
  • NM_001408431.1:c.410dup
  • NM_001408432.1:c.410dup
  • NM_001408433.1:c.410dup
  • NM_001408434.1:c.410dup
  • NM_001408435.1:c.410dup
  • NM_001408436.1:c.410dup
  • NM_001408437.1:c.410dup
  • NM_001408438.1:c.410dup
  • NM_001408439.1:c.410dup
  • NM_001408440.1:c.410dup
  • NM_001408441.1:c.410dup
  • NM_001408442.1:c.410dup
  • NM_001408443.1:c.410dup
  • NM_001408444.1:c.410dup
  • NM_001408445.1:c.410dup
  • NM_001408446.1:c.410dup
  • NM_001408447.1:c.410dup
  • NM_001408448.1:c.410dup
  • NM_001408450.1:c.410dup
  • NM_001408451.1:c.278dup
  • NM_001408452.1:c.269dup
  • NM_001408453.1:c.269dup
  • NM_001408454.1:c.269dup
  • NM_001408455.1:c.269dup
  • NM_001408456.1:c.269dup
  • NM_001408457.1:c.269dup
  • NM_001408458.1:c.269dup
  • NM_001408459.1:c.269dup
  • NM_001408460.1:c.269dup
  • NM_001408461.1:c.269dup
  • NM_001408462.1:c.269dup
  • NM_001408463.1:c.269dup
  • NM_001408464.1:c.269dup
  • NM_001408465.1:c.269dup
  • NM_001408466.1:c.269dup
  • NM_001408467.1:c.269dup
  • NM_001408468.1:c.269dup
  • NM_001408469.1:c.269dup
  • NM_001408470.1:c.269dup
  • NM_001408472.1:c.410dup
  • NM_001408473.1:c.410dup
  • NM_001408474.1:c.332dup
  • NM_001408475.1:c.332dup
  • NM_001408476.1:c.332dup
  • NM_001408478.1:c.200dup
  • NM_001408479.1:c.200dup
  • NM_001408480.1:c.200dup
  • NM_001408481.1:c.200dup
  • NM_001408482.1:c.200dup
  • NM_001408483.1:c.200dup
  • NM_001408484.1:c.200dup
  • NM_001408485.1:c.200dup
  • NM_001408489.1:c.200dup
  • NM_001408490.1:c.200dup
  • NM_001408491.1:c.200dup
  • NM_001408492.1:c.200dup
  • NM_001408493.1:c.200dup
  • NM_001408494.1:c.410dup
  • NM_001408495.1:c.410dup
  • NM_001408496.1:c.269dup
  • NM_001408497.1:c.269dup
  • NM_001408498.1:c.269dup
  • NM_001408499.1:c.269dup
  • NM_001408500.1:c.269dup
  • NM_001408501.1:c.269dup
  • NM_001408502.1:c.200dup
  • NM_001408503.1:c.269dup
  • NM_001408504.1:c.269dup
  • NM_001408505.1:c.269dup
  • NM_001408506.1:c.200dup
  • NM_001408507.1:c.200dup
  • NM_001408508.1:c.200dup
  • NM_001408509.1:c.200dup
  • NM_001408510.1:c.29dup
  • NM_001408511.1:c.269dup
  • NM_001408512.1:c.29dup
  • NM_001408513.1:c.200dup
  • NM_001408514.1:c.200dup
  • NM_007294.4:c.411dupMANE SELECT
  • NM_007297.4:c.270dup
  • NM_007298.4:c.410dup
  • NM_007299.4:c.411dup
  • NM_007300.3:c.411_412insT
  • NM_007300.4:c.411dup
  • NM_007304.2:c.410dup
  • NP_001394500.1:p.Leu68Serfs
  • NP_001394510.1:p.Leu138Serfs
  • NP_001394511.1:p.Leu138Serfs
  • NP_001394512.1:p.Leu138Serfs
  • NP_001394514.1:p.Leu138Serfs
  • NP_001394516.1:p.Leu138Serfs
  • NP_001394519.1:p.Leu138Serfs
  • NP_001394520.1:p.Leu138Serfs
  • NP_001394522.1:p.Leu138Serfs
  • NP_001394523.1:p.Leu138Serfs
  • NP_001394525.1:p.Leu138Serfs
  • NP_001394526.1:p.Leu138Serfs
  • NP_001394527.1:p.Leu138Serfs
  • NP_001394531.1:p.Leu138Serfs
  • NP_001394532.1:p.Leu138Serfs
  • NP_001394534.1:p.Leu138Serfs
  • NP_001394539.1:p.Leu138Serfs
  • NP_001394540.1:p.Leu138Serfs
  • NP_001394541.1:p.Leu138Serfs
  • NP_001394542.1:p.Leu138Serfs
  • NP_001394543.1:p.Leu138Serfs
  • NP_001394544.1:p.Leu138Serfs
  • NP_001394545.1:p.Leu138Serfs
  • NP_001394546.1:p.Leu138Serfs
  • NP_001394547.1:p.Leu138Serfs
  • NP_001394548.1:p.Leu138Serfs
  • NP_001394549.1:p.Leu138Serfs
  • NP_001394550.1:p.Leu138Serfs
  • NP_001394551.1:p.Leu138Serfs
  • NP_001394552.1:p.Leu138Serfs
  • NP_001394553.1:p.Leu138Serfs
  • NP_001394554.1:p.Leu138Serfs
  • NP_001394555.1:p.Leu138Serfs
  • NP_001394556.1:p.Leu138Serfs
  • NP_001394557.1:p.Leu138Serfs
  • NP_001394558.1:p.Leu138Serfs
  • NP_001394559.1:p.Leu138Serfs
  • NP_001394560.1:p.Leu138Serfs
  • NP_001394561.1:p.Leu138Serfs
  • NP_001394562.1:p.Leu138Serfs
  • NP_001394563.1:p.Leu138Serfs
  • NP_001394564.1:p.Leu138Serfs
  • NP_001394565.1:p.Leu138Serfs
  • NP_001394566.1:p.Leu138Serfs
  • NP_001394567.1:p.Leu138Serfs
  • NP_001394568.1:p.Leu138Serfs
  • NP_001394569.1:p.Leu138Serfs
  • NP_001394570.1:p.Leu138Serfs
  • NP_001394571.1:p.Leu138Serfs
  • NP_001394573.1:p.Leu138Serfs
  • NP_001394574.1:p.Leu138Serfs
  • NP_001394575.1:p.Leu135Serfs
  • NP_001394576.1:p.Leu135Serfs
  • NP_001394577.1:p.Leu138Serfs
  • NP_001394578.1:p.Leu138Serfs
  • NP_001394581.1:p.Leu138Serfs
  • NP_001394582.1:p.Leu112Serfs
  • NP_001394583.1:p.Leu112Serfs
  • NP_001394584.1:p.Leu112Serfs
  • NP_001394585.1:p.Leu112Serfs
  • NP_001394586.1:p.Leu112Serfs
  • NP_001394587.1:p.Leu112Serfs
  • NP_001394588.1:p.Leu112Serfs
  • NP_001394589.1:p.Leu112Serfs
  • NP_001394590.1:p.Leu112Serfs
  • NP_001394591.1:p.Leu112Serfs
  • NP_001394592.1:p.Leu112Serfs
  • NP_001394593.1:p.Leu138Serfs
  • NP_001394594.1:p.Leu138Serfs
  • NP_001394595.1:p.Leu138Serfs
  • NP_001394596.1:p.Leu138Serfs
  • NP_001394597.1:p.Leu138Serfs
  • NP_001394598.1:p.Leu138Serfs
  • NP_001394599.1:p.Leu138Serfs
  • NP_001394600.1:p.Leu138Serfs
  • NP_001394601.1:p.Leu138Serfs
  • NP_001394602.1:p.Leu138Serfs
  • NP_001394603.1:p.Leu138Serfs
  • NP_001394604.1:p.Leu138Serfs
  • NP_001394605.1:p.Leu138Serfs
  • NP_001394606.1:p.Leu138Serfs
  • NP_001394607.1:p.Leu138Serfs
  • NP_001394608.1:p.Leu138Serfs
  • NP_001394609.1:p.Leu138Serfs
  • NP_001394610.1:p.Leu138Serfs
  • NP_001394611.1:p.Leu138Serfs
  • NP_001394612.1:p.Leu138Serfs
  • NP_001394613.1:p.Leu138Serfs
  • NP_001394614.1:p.Leu138Serfs
  • NP_001394615.1:p.Leu138Serfs
  • NP_001394616.1:p.Leu138Serfs
  • NP_001394617.1:p.Leu138Serfs
  • NP_001394618.1:p.Leu138Serfs
  • NP_001394619.1:p.Leu138Serfs
  • NP_001394620.1:p.Leu138Serfs
  • NP_001394621.1:p.Leu91Serfs
  • NP_001394623.1:p.Leu91Serfs
  • NP_001394624.1:p.Leu91Serfs
  • NP_001394625.1:p.Leu91Serfs
  • NP_001394626.1:p.Leu91Serfs
  • NP_001394627.1:p.Leu91Serfs
  • NP_001394653.1:p.Leu91Serfs
  • NP_001394654.1:p.Leu91Serfs
  • NP_001394655.1:p.Leu91Serfs
  • NP_001394656.1:p.Leu91Serfs
  • NP_001394657.1:p.Leu91Serfs
  • NP_001394658.1:p.Leu91Serfs
  • NP_001394659.1:p.Leu91Serfs
  • NP_001394660.1:p.Leu91Serfs
  • NP_001394661.1:p.Leu91Serfs
  • NP_001394662.1:p.Leu91Serfs
  • NP_001394663.1:p.Leu91Serfs
  • NP_001394664.1:p.Leu91Serfs
  • NP_001394665.1:p.Leu91Serfs
  • NP_001394666.1:p.Leu91Serfs
  • NP_001394667.1:p.Leu91Serfs
  • NP_001394668.1:p.Leu91Serfs
  • NP_001394669.1:p.Leu91Serfs
  • NP_001394670.1:p.Leu91Serfs
  • NP_001394671.1:p.Leu91Serfs
  • NP_001394672.1:p.Leu91Serfs
  • NP_001394673.1:p.Leu91Serfs
  • NP_001394674.1:p.Leu91Serfs
  • NP_001394675.1:p.Leu91Serfs
  • NP_001394676.1:p.Leu91Serfs
  • NP_001394677.1:p.Leu91Serfs
  • NP_001394678.1:p.Leu91Serfs
  • NP_001394679.1:p.Leu91Serfs
  • NP_001394680.1:p.Leu91Serfs
  • NP_001394681.1:p.Leu91Serfs
  • NP_001394767.1:p.Leu91Serfs
  • NP_001394768.1:p.Leu91Serfs
  • NP_001394770.1:p.Leu91Serfs
  • NP_001394771.1:p.Leu91Serfs
  • NP_001394772.1:p.Leu91Serfs
  • NP_001394773.1:p.Leu91Serfs
  • NP_001394774.1:p.Leu91Serfs
  • NP_001394775.1:p.Leu91Serfs
  • NP_001394776.1:p.Leu91Serfs
  • NP_001394777.1:p.Leu91Serfs
  • NP_001394778.1:p.Leu91Serfs
  • NP_001394779.1:p.Leu91Serfs
  • NP_001394780.1:p.Leu91Serfs
  • NP_001394781.1:p.Leu91Serfs
  • NP_001394782.1:p.Leu68Serfs
  • NP_001394783.1:p.Leu138Serfs
  • NP_001394787.1:p.Leu138Serfs
  • NP_001394788.1:p.Leu138Serfs
  • NP_001394789.1:p.Leu138Serfs
  • NP_001394790.1:p.Leu138Serfs
  • NP_001394791.1:p.Leu112Serfs
  • NP_001394792.1:p.Leu138Serfs
  • NP_001394803.1:p.Leu112Serfs
  • NP_001394804.1:p.Leu112Serfs
  • NP_001394808.1:p.Leu68Serfs
  • NP_001394810.1:p.Leu68Serfs
  • NP_001394811.1:p.Leu68Serfs
  • NP_001394813.1:p.Leu68Serfs
  • NP_001394814.1:p.Leu68Serfs
  • NP_001394815.1:p.Leu68Serfs
  • NP_001394816.1:p.Leu68Serfs
  • NP_001394818.1:p.Leu68Serfs
  • NP_001394823.1:p.Leu68Serfs
  • NP_001394824.1:p.Leu68Serfs
  • NP_001394825.1:p.Leu68Serfs
  • NP_001394826.1:p.Leu68Serfs
  • NP_001394827.1:p.Leu68Serfs
  • NP_001394828.1:p.Leu68Serfs
  • NP_001394829.1:p.Leu68Serfs
  • NP_001394831.1:p.Leu68Serfs
  • NP_001394833.1:p.Leu68Serfs
  • NP_001394835.1:p.Leu68Serfs
  • NP_001394836.1:p.Leu68Serfs
  • NP_001394837.1:p.Leu68Serfs
  • NP_001394838.1:p.Leu68Serfs
  • NP_001394839.1:p.Leu68Serfs
  • NP_001394844.1:p.Leu68Serfs
  • NP_001394845.1:p.Leu68Serfs
  • NP_001394846.1:p.Leu68Serfs
  • NP_001394847.1:p.Leu68Serfs
  • NP_001394848.1:p.Leu138Serfs
  • NP_001394849.1:p.Leu91Serfs
  • NP_001394850.1:p.Leu91Serfs
  • NP_001394851.1:p.Leu91Serfs
  • NP_001394852.1:p.Leu91Serfs
  • NP_001394853.1:p.Leu91Serfs
  • NP_001394854.1:p.Leu91Serfs
  • NP_001394855.1:p.Leu91Serfs
  • NP_001394856.1:p.Leu91Serfs
  • NP_001394857.1:p.Leu91Serfs
  • NP_001394858.1:p.Leu91Serfs
  • NP_001394859.1:p.Leu91Serfs
  • NP_001394860.1:p.Leu91Serfs
  • NP_001394861.1:p.Leu91Serfs
  • NP_001394862.1:p.Leu91Serfs
  • NP_001394863.1:p.Leu91Serfs
  • NP_001394864.1:p.Leu91Serfs
  • NP_001394865.1:p.Leu91Serfs
  • NP_001394866.1:p.Leu138Serfs
  • NP_001394867.1:p.Leu138Serfs
  • NP_001394868.1:p.Leu138Serfs
  • NP_001394869.1:p.Leu138Serfs
  • NP_001394870.1:p.Leu138Serfs
  • NP_001394871.1:p.Leu91Serfs
  • NP_001394872.1:p.Leu91Serfs
  • NP_001394873.1:p.Leu91Serfs
  • NP_001394874.1:p.Leu91Serfs
  • NP_001394875.1:p.Leu68Serfs
  • NP_001394876.1:p.Leu68Serfs
  • NP_001394877.1:p.Leu68Serfs
  • NP_001394878.1:p.Leu68Serfs
  • NP_001394879.1:p.Leu68Serfs
  • NP_001394880.1:p.Leu68Serfs
  • NP_001394881.1:p.Leu68Serfs
  • NP_001394882.1:p.Leu68Serfs
  • NP_001394883.1:p.Leu68Serfs
  • NP_001394884.1:p.Leu68Serfs
  • NP_001394885.1:p.Leu68Serfs
  • NP_001394886.1:p.Leu68Serfs
  • NP_001394887.1:p.Leu68Serfs
  • NP_001394888.1:p.Leu11Serfs
  • NP_001394889.1:p.Leu11Serfs
  • NP_001394891.1:p.Leu11Serfs
  • NP_001394892.1:p.Leu11Serfs
  • NP_001394893.1:p.Leu91Serfs
  • NP_001394894.1:p.Leu11Serfs
  • NP_001394897.1:p.Leu138Serfs
  • NP_001394898.1:p.Leu138Serfs
  • NP_001394899.1:p.Leu138Serfs
  • NP_001394900.1:p.Leu138Serfs
  • NP_001394901.1:p.Leu138Serfs
  • NP_001394902.1:p.Leu138Serfs
  • NP_001394903.1:p.Leu138Serfs
  • NP_001394904.1:p.Leu138Serfs
  • NP_001394905.1:p.Leu138Serfs
  • NP_001394906.1:p.Leu138Serfs
  • NP_001394907.1:p.Leu138Serfs
  • NP_001394908.1:p.Leu138Serfs
  • NP_001394909.1:p.Leu138Serfs
  • NP_001394910.1:p.Leu138Serfs
  • NP_001394911.1:p.Leu138Serfs
  • NP_001394912.1:p.Leu138Serfs
  • NP_001394913.1:p.Leu138Serfs
  • NP_001394914.1:p.Leu138Serfs
  • NP_001394915.1:p.Leu138Serfs
  • NP_001394919.1:p.Leu138Serfs
  • NP_001394920.1:p.Leu138Serfs
  • NP_001394921.1:p.Leu138Serfs
  • NP_001394922.1:p.Leu138Serfs
  • NP_001395321.1:p.Leu138Serfs
  • NP_001395325.1:p.Leu138Serfs
  • NP_001395326.1:p.Leu138Serfs
  • NP_001395327.1:p.Leu138Serfs
  • NP_001395328.1:p.Leu138Serfs
  • NP_001395329.1:p.Leu138Serfs
  • NP_001395330.1:p.Leu138Serfs
  • NP_001395331.1:p.Leu138Serfs
  • NP_001395332.1:p.Leu138Serfs
  • NP_001395333.1:p.Leu138Serfs
  • NP_001395335.1:p.Leu138Serfs
  • NP_001395336.1:p.Leu138Serfs
  • NP_001395337.1:p.Leu135Serfs
  • NP_001395338.1:p.Leu112Serfs
  • NP_001395339.1:p.Leu91Serfs
  • NP_001395340.1:p.Leu112Serfs
  • NP_001395341.1:p.Leu112Serfs
  • NP_001395342.1:p.Leu112Serfs
  • NP_001395343.1:p.Leu112Serfs
  • NP_001395344.1:p.Leu112Serfs
  • NP_001395345.1:p.Leu112Serfs
  • NP_001395347.1:p.Leu138Serfs
  • NP_001395348.1:p.Leu138Serfs
  • NP_001395349.1:p.Leu138Serfs
  • NP_001395350.1:p.Leu138Serfs
  • NP_001395351.1:p.Leu138Serfs
  • NP_001395352.1:p.Leu138Serfs
  • NP_001395353.1:p.Leu138Serfs
  • NP_001395354.1:p.Leu138Serfs
  • NP_001395355.1:p.Leu138Serfs
  • NP_001395356.1:p.Leu138Serfs
  • NP_001395357.1:p.Leu138Serfs
  • NP_001395358.1:p.Leu138Serfs
  • NP_001395359.1:p.Leu138Serfs
  • NP_001395360.1:p.Leu138Serfs
  • NP_001395361.1:p.Leu138Serfs
  • NP_001395362.1:p.Leu138Serfs
  • NP_001395363.1:p.Leu138Serfs
  • NP_001395364.1:p.Leu138Serfs
  • NP_001395365.1:p.Leu138Serfs
  • NP_001395366.1:p.Leu138Serfs
  • NP_001395367.1:p.Leu138Serfs
  • NP_001395368.1:p.Leu138Serfs
  • NP_001395369.1:p.Leu138Serfs
  • NP_001395370.1:p.Leu138Serfs
  • NP_001395371.1:p.Leu138Serfs
  • NP_001395372.1:p.Leu138Serfs
  • NP_001395373.1:p.Leu138Serfs
  • NP_001395374.1:p.Leu138Serfs
  • NP_001395375.1:p.Leu138Serfs
  • NP_001395376.1:p.Leu138Serfs
  • NP_001395377.1:p.Leu138Serfs
  • NP_001395379.1:p.Leu138Serfs
  • NP_001395380.1:p.Leu94Serfs
  • NP_001395381.1:p.Leu91Serfs
  • NP_001395382.1:p.Leu91Serfs
  • NP_001395383.1:p.Leu91Serfs
  • NP_001395384.1:p.Leu91Serfs
  • NP_001395385.1:p.Leu91Serfs
  • NP_001395386.1:p.Leu91Serfs
  • NP_001395387.1:p.Leu91Serfs
  • NP_001395388.1:p.Leu91Serfs
  • NP_001395389.1:p.Leu91Serfs
  • NP_001395390.1:p.Leu91Serfs
  • NP_001395391.1:p.Leu91Serfs
  • NP_001395392.1:p.Leu91Serfs
  • NP_001395393.1:p.Leu91Serfs
  • NP_001395394.1:p.Leu91Serfs
  • NP_001395395.1:p.Leu91Serfs
  • NP_001395396.1:p.Leu91Serfs
  • NP_001395397.1:p.Leu91Serfs
  • NP_001395398.1:p.Leu91Serfs
  • NP_001395399.1:p.Leu91Serfs
  • NP_001395401.1:p.Leu138Serfs
  • NP_001395402.1:p.Leu138Serfs
  • NP_001395403.1:p.Leu112Serfs
  • NP_001395404.1:p.Leu112Serfs
  • NP_001395405.1:p.Leu112Serfs
  • NP_001395407.1:p.Leu68Serfs
  • NP_001395408.1:p.Leu68Serfs
  • NP_001395409.1:p.Leu68Serfs
  • NP_001395410.1:p.Leu68Serfs
  • NP_001395411.1:p.Leu68Serfs
  • NP_001395412.1:p.Leu68Serfs
  • NP_001395413.1:p.Leu68Serfs
  • NP_001395414.1:p.Leu68Serfs
  • NP_001395418.1:p.Leu68Serfs
  • NP_001395419.1:p.Leu68Serfs
  • NP_001395420.1:p.Leu68Serfs
  • NP_001395421.1:p.Leu68Serfs
  • NP_001395422.1:p.Leu68Serfs
  • NP_001395423.1:p.Leu138Serfs
  • NP_001395424.1:p.Leu138Serfs
  • NP_001395425.1:p.Leu91Serfs
  • NP_001395426.1:p.Leu91Serfs
  • NP_001395427.1:p.Leu91Serfs
  • NP_001395428.1:p.Leu91Serfs
  • NP_001395429.1:p.Leu91Serfs
  • NP_001395430.1:p.Leu91Serfs
  • NP_001395431.1:p.Leu68Serfs
  • NP_001395432.1:p.Leu91Serfs
  • NP_001395433.1:p.Leu91Serfs
  • NP_001395434.1:p.Leu91Serfs
  • NP_001395435.1:p.Leu68Serfs
  • NP_001395436.1:p.Leu68Serfs
  • NP_001395437.1:p.Leu68Serfs
  • NP_001395438.1:p.Leu68Serfs
  • NP_001395439.1:p.Leu11Serfs
  • NP_001395440.1:p.Leu91Serfs
  • NP_001395441.1:p.Leu11Serfs
  • NP_001395442.1:p.Leu68Serfs
  • NP_001395443.1:p.Leu68Serfs
  • NP_009225.1:p.Leu138Serfs
  • NP_009225.1:p.Leu138fs
  • NP_009228.2:p.Leu91fs
  • NP_009229.2:p.Leu138Serfs
  • NP_009229.2:p.Leu138fs
  • NP_009230.2:p.Leu138fs
  • NP_009231.2:p.Leu138fs
  • NP_009235.2:p.Leu138Serfs
  • LRG_292t1:c.410dup
  • LRG_292:g.113832dup
  • LRG_292p1:p.Leu138Serfs
  • NC_000017.10:g.41256168_41256169insA
  • NC_000017.10:g.41256170dup
  • NM_007294.3:c.410dup
  • NM_007294.3:c.411dupT
  • NM_007294.4:c.411dup
  • NM_007298.3:c.411dup
  • NR_027676.2:n.591dup
  • p.(Leu138SerfsTer4)
Protein change:
L138fs
Links:
dbSNP: rs886040205
NCBI 1000 Genomes Browser:
rs886040205
Molecular consequence:
  • NM_001407571.1:c.200dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407581.1:c.410dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407582.1:c.410dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407583.1:c.410dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407585.1:c.410dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407587.1:c.410dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407590.1:c.410dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407591.1:c.410dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407593.1:c.410dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407594.1:c.410dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407596.1:c.410dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407597.1:c.410dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407598.1:c.410dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407602.1:c.410dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407603.1:c.410dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407605.1:c.410dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407610.1:c.410dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407611.1:c.410dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407612.1:c.410dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407613.1:c.410dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407614.1:c.410dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407615.1:c.410dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407616.1:c.410dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407617.1:c.410dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407618.1:c.410dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407619.1:c.410dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407620.1:c.410dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407621.1:c.410dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407622.1:c.410dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407623.1:c.410dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407624.1:c.410dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407625.1:c.410dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407626.1:c.410dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407627.1:c.410dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407628.1:c.410dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407629.1:c.410dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407630.1:c.410dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407631.1:c.410dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407632.1:c.410dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407633.1:c.410dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407634.1:c.410dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407635.1:c.410dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407636.1:c.410dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407637.1:c.410dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407638.1:c.410dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407639.1:c.410dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407640.1:c.410dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407641.1:c.410dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407642.1:c.410dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407644.1:c.410dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407645.1:c.410dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407646.1:c.401dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407647.1:c.401dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407648.1:c.410dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407649.1:c.410dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407652.1:c.410dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407653.1:c.332dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407654.1:c.332dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407655.1:c.332dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407656.1:c.332dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407657.1:c.332dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407658.1:c.332dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407659.1:c.332dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407660.1:c.332dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407661.1:c.332dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407662.1:c.332dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407663.1:c.332dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407664.1:c.410dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407665.1:c.410dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407666.1:c.410dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407667.1:c.410dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407668.1:c.410dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407669.1:c.410dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407670.1:c.410dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407671.1:c.410dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407672.1:c.410dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407673.1:c.410dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407674.1:c.410dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407675.1:c.410dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407676.1:c.410dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407677.1:c.410dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407678.1:c.410dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407679.1:c.410dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407680.1:c.410dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407681.1:c.410dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407682.1:c.410dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407683.1:c.410dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407684.1:c.410dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407685.1:c.410dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407686.1:c.410dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407687.1:c.410dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407688.1:c.410dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407689.1:c.410dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407690.1:c.410dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407691.1:c.410dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407692.1:c.269dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407694.1:c.269dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407695.1:c.269dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407696.1:c.269dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407697.1:c.269dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407698.1:c.269dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407724.1:c.269dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407725.1:c.269dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407726.1:c.269dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407727.1:c.269dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407728.1:c.269dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407729.1:c.269dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407730.1:c.269dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407731.1:c.269dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407732.1:c.269dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407733.1:c.269dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407734.1:c.269dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407735.1:c.269dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407736.1:c.269dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407737.1:c.269dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407738.1:c.269dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407739.1:c.269dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407740.1:c.269dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407741.1:c.269dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407742.1:c.269dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407743.1:c.269dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407744.1:c.269dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407745.1:c.269dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407746.1:c.269dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407747.1:c.269dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407748.1:c.269dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407749.1:c.269dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407750.1:c.269dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407751.1:c.269dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407752.1:c.269dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407838.1:c.269dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407839.1:c.269dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407841.1:c.269dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407842.1:c.269dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407843.1:c.269dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407844.1:c.269dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407845.1:c.269dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407846.1:c.269dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407847.1:c.269dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407848.1:c.269dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407849.1:c.269dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407850.1:c.269dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407851.1:c.269dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407852.1:c.269dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407853.1:c.200dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407854.1:c.410dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407858.1:c.410dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407859.1:c.410dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407860.1:c.410dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407861.1:c.410dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407862.1:c.332dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407863.1:c.410dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407874.1:c.332dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407875.1:c.332dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407879.1:c.200dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407881.1:c.200dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407882.1:c.200dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407884.1:c.200dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407885.1:c.200dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407886.1:c.200dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407887.1:c.200dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407889.1:c.200dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407894.1:c.200dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407895.1:c.200dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407896.1:c.200dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407897.1:c.200dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407898.1:c.200dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407899.1:c.200dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407900.1:c.200dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407902.1:c.200dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407904.1:c.200dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407906.1:c.200dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407907.1:c.200dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407908.1:c.200dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407909.1:c.200dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407910.1:c.200dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407915.1:c.200dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407916.1:c.200dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407917.1:c.200dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407918.1:c.200dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407919.1:c.410dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407920.1:c.269dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407921.1:c.269dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407922.1:c.269dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407923.1:c.269dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407924.1:c.269dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407925.1:c.269dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407926.1:c.269dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407927.1:c.269dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407928.1:c.269dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407929.1:c.269dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407930.1:c.269dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407931.1:c.269dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407932.1:c.269dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407933.1:c.269dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407934.1:c.269dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407935.1:c.269dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407936.1:c.269dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407937.1:c.410dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407938.1:c.410dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407939.1:c.410dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407940.1:c.410dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407941.1:c.410dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407942.1:c.269dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407943.1:c.269dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407944.1:c.269dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407945.1:c.269dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407946.1:c.200dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407947.1:c.200dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407948.1:c.200dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407949.1:c.200dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407950.1:c.200dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407951.1:c.200dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407952.1:c.200dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407953.1:c.200dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407954.1:c.200dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407955.1:c.200dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407956.1:c.200dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407957.1:c.200dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407958.1:c.200dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407959.1:c.29dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407960.1:c.29dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407962.1:c.29dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407963.1:c.29dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407964.1:c.269dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407965.1:c.29dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407968.1:c.410dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407969.1:c.410dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407970.1:c.410dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407971.1:c.410dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407972.1:c.410dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407973.1:c.410dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407974.1:c.410dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407975.1:c.410dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407976.1:c.410dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407977.1:c.410dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407978.1:c.410dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407979.1:c.410dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407980.1:c.410dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407981.1:c.410dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407982.1:c.410dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407983.1:c.410dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407984.1:c.410dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407985.1:c.410dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407986.1:c.410dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407990.1:c.410dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407991.1:c.410dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407992.1:c.410dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407993.1:c.410dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408392.1:c.410dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408396.1:c.410dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408397.1:c.410dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408398.1:c.410dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408399.1:c.410dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408400.1:c.410dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408401.1:c.410dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408402.1:c.410dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408403.1:c.410dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408404.1:c.410dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408406.1:c.410dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408407.1:c.410dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408408.1:c.401dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408409.1:c.332dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408410.1:c.269dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408411.1:c.332dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408412.1:c.332dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408413.1:c.332dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408414.1:c.332dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408415.1:c.332dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408416.1:c.332dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408418.1:c.410dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408419.1:c.410dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408420.1:c.410dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408421.1:c.410dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408422.1:c.410dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408423.1:c.410dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408424.1:c.410dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408425.1:c.410dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408426.1:c.410dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408427.1:c.410dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408428.1:c.410dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408429.1:c.410dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408430.1:c.410dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408431.1:c.410dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408432.1:c.410dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408433.1:c.410dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408434.1:c.410dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408435.1:c.410dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408436.1:c.410dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408437.1:c.410dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408438.1:c.410dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408439.1:c.410dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408440.1:c.410dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408441.1:c.410dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408442.1:c.410dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408443.1:c.410dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408444.1:c.410dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408445.1:c.410dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408446.1:c.410dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408447.1:c.410dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408448.1:c.410dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408450.1:c.410dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408451.1:c.278dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408452.1:c.269dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408453.1:c.269dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408454.1:c.269dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408455.1:c.269dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408456.1:c.269dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408457.1:c.269dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408458.1:c.269dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408459.1:c.269dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408460.1:c.269dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408461.1:c.269dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408462.1:c.269dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408463.1:c.269dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408464.1:c.269dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408465.1:c.269dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408466.1:c.269dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408467.1:c.269dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408468.1:c.269dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408469.1:c.269dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408470.1:c.269dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408472.1:c.410dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408473.1:c.410dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408474.1:c.332dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408475.1:c.332dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408476.1:c.332dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408478.1:c.200dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408479.1:c.200dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408480.1:c.200dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408481.1:c.200dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408482.1:c.200dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408483.1:c.200dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408484.1:c.200dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408485.1:c.200dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408489.1:c.200dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408490.1:c.200dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408491.1:c.200dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408492.1:c.200dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408493.1:c.200dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408494.1:c.410dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408495.1:c.410dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408496.1:c.269dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408497.1:c.269dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408498.1:c.269dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408499.1:c.269dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408500.1:c.269dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408501.1:c.269dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408502.1:c.200dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408503.1:c.269dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408504.1:c.269dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408505.1:c.269dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408506.1:c.200dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408507.1:c.200dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408508.1:c.200dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408509.1:c.200dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408510.1:c.29dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408511.1:c.269dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408512.1:c.29dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408513.1:c.200dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408514.1:c.200dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_007294.4:c.411dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_007297.4:c.270dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_007298.4:c.410dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_007299.4:c.411dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_007300.4:c.411dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_007304.2:c.410dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NR_027676.2:n.591dup - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000779010GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Pathogenic
(Jan 2, 2017) 		germlineclinical testing

Citation Link,

SCV004238508Revvity Omics, Revvity
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely pathogenic
(Apr 10, 2023) 		germlineclinical testing

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

Help

Summary from all submissions

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

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From GeneDx, SCV000779010.2

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

Description

This duplication of a single nucleotide in BRCA1 is denoted c.411dupT at the cDNA level and p.Leu138SerfsX4 (L138SfsX4) at the protein level. The normal sequence, with the base that is duplicated in brackets, is GACT[dupT]CTAC. The duplication causes a frameshift which changes a Leucine to a Serine at codon 138, and creates a premature stop codon at position 4 of the new reading frame. Although this variant has not, to our knowledge, been reported in the literature, it is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. We consider this variant to be pathogenic.

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

From Revvity Omics, Revvity, SCV004238508.1

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

Last Updated: Oct 26, 2024