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NM_007294.4(BRCA1):c.124del (p.Ile42fs) AND not provided

Germline classification:
Pathogenic (2 submissions)
Last evaluated:
May 18, 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:
RCV001008099.13

Allele description [Variation Report for NM_007294.4(BRCA1):c.124del (p.Ile42fs)]

NM_007294.4(BRCA1):c.124del (p.Ile42fs)

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.124del (p.Ile42fs)
Other names:
243delA
HGVS:
  • NC_000017.11:g.43115736del
  • NG_005905.2:g.102248del
  • NM_001407571.1:c.-65delA
  • NM_001407581.1:c.124delA
  • NM_001407582.1:c.124delA
  • NM_001407583.1:c.124delA
  • NM_001407585.1:c.124delA
  • NM_001407587.1:c.124delA
  • NM_001407590.1:c.124delA
  • NM_001407591.1:c.124delA
  • NM_001407593.1:c.124delA
  • NM_001407594.1:c.124delA
  • NM_001407596.1:c.124delA
  • NM_001407597.1:c.124delA
  • NM_001407598.1:c.124delA
  • NM_001407602.1:c.124delA
  • NM_001407603.1:c.124delA
  • NM_001407605.1:c.124delA
  • NM_001407610.1:c.124delA
  • NM_001407611.1:c.124delA
  • NM_001407612.1:c.124delA
  • NM_001407613.1:c.124delA
  • NM_001407614.1:c.124delA
  • NM_001407615.1:c.124delA
  • NM_001407616.1:c.124delA
  • NM_001407617.1:c.124delA
  • NM_001407618.1:c.124delA
  • NM_001407619.1:c.124delA
  • NM_001407620.1:c.124delA
  • NM_001407621.1:c.124delA
  • NM_001407622.1:c.124delA
  • NM_001407623.1:c.124delA
  • NM_001407624.1:c.124delA
  • NM_001407625.1:c.124delA
  • NM_001407626.1:c.124delA
  • NM_001407627.1:c.124delA
  • NM_001407628.1:c.124delA
  • NM_001407629.1:c.124delA
  • NM_001407630.1:c.124delA
  • NM_001407631.1:c.124delA
  • NM_001407632.1:c.124delA
  • NM_001407633.1:c.124delA
  • NM_001407634.1:c.124delA
  • NM_001407635.1:c.124delA
  • NM_001407636.1:c.124delA
  • NM_001407637.1:c.124delA
  • NM_001407638.1:c.124delA
  • NM_001407639.1:c.124delA
  • NM_001407640.1:c.124delA
  • NM_001407641.1:c.124delA
  • NM_001407642.1:c.124delA
  • NM_001407644.1:c.124delA
  • NM_001407645.1:c.124delA
  • NM_001407646.1:c.124delA
  • NM_001407647.1:c.124delA
  • NM_001407648.1:c.124delA
  • NM_001407649.1:c.124delA
  • NM_001407652.1:c.124delA
  • NM_001407653.1:c.124delA
  • NM_001407654.1:c.124delA
  • NM_001407655.1:c.124delA
  • NM_001407656.1:c.124delA
  • NM_001407657.1:c.124delA
  • NM_001407658.1:c.124delA
  • NM_001407659.1:c.124delA
  • NM_001407660.1:c.124delA
  • NM_001407661.1:c.124delA
  • NM_001407662.1:c.124delA
  • NM_001407663.1:c.124delA
  • NM_001407664.1:c.124delA
  • NM_001407665.1:c.124delA
  • NM_001407666.1:c.124delA
  • NM_001407667.1:c.124delA
  • NM_001407668.1:c.124delA
  • NM_001407669.1:c.124delA
  • NM_001407670.1:c.124delA
  • NM_001407671.1:c.124delA
  • NM_001407672.1:c.124delA
  • NM_001407673.1:c.124delA
  • NM_001407674.1:c.124delA
  • NM_001407675.1:c.124delA
  • NM_001407676.1:c.124delA
  • NM_001407677.1:c.124delA
  • NM_001407678.1:c.124delA
  • NM_001407679.1:c.124delA
  • NM_001407680.1:c.124delA
  • NM_001407681.1:c.124delA
  • NM_001407682.1:c.124delA
  • NM_001407683.1:c.124delA
  • NM_001407684.1:c.124delA
  • NM_001407685.1:c.124delA
  • NM_001407686.1:c.124delA
  • NM_001407687.1:c.124delA
  • NM_001407688.1:c.124delA
  • NM_001407689.1:c.124delA
  • NM_001407690.1:c.124delA
  • NM_001407691.1:c.124delA
  • NM_001407694.1:c.-134delA
  • NM_001407695.1:c.-138delA
  • NM_001407696.1:c.-134delA
  • NM_001407697.1:c.-18delA
  • NM_001407724.1:c.-134delA
  • NM_001407725.1:c.-18delA
  • NM_001407727.1:c.-134delA
  • NM_001407728.1:c.-18delA
  • NM_001407729.1:c.-18delA
  • NM_001407730.1:c.-18delA
  • NM_001407731.1:c.-134delA
  • NM_001407733.1:c.-134delA
  • NM_001407734.1:c.-18delA
  • NM_001407735.1:c.-18delA
  • NM_001407737.1:c.-18delA
  • NM_001407739.1:c.-18delA
  • NM_001407740.1:c.-18delA
  • NM_001407741.1:c.-18delA
  • NM_001407743.1:c.-18delA
  • NM_001407745.1:c.-18delA
  • NM_001407746.1:c.-134delA
  • NM_001407748.1:c.-18delA
  • NM_001407749.1:c.-134delA
  • NM_001407752.1:c.-18delA
  • NM_001407838.1:c.-18delA
  • NM_001407839.1:c.-18delA
  • NM_001407841.1:c.-14delA
  • NM_001407842.1:c.-134delA
  • NM_001407843.1:c.-134delA
  • NM_001407844.1:c.-18delA
  • NM_001407846.1:c.-18delA
  • NM_001407847.1:c.-18delA
  • NM_001407848.1:c.-18delA
  • NM_001407850.1:c.-18delA
  • NM_001407851.1:c.-18delA
  • NM_001407853.1:c.-65delA
  • NM_001407854.1:c.124delA
  • NM_001407858.1:c.124delA
  • NM_001407859.1:c.124delA
  • NM_001407860.1:c.124delA
  • NM_001407861.1:c.124delA
  • NM_001407862.1:c.124delA
  • NM_001407863.1:c.124delA
  • NM_001407874.1:c.124delA
  • NM_001407875.1:c.124delA
  • NM_001407879.1:c.-65delA
  • NM_001407882.1:c.-65delA
  • NM_001407884.1:c.-65delA
  • NM_001407885.1:c.-65delA
  • NM_001407886.1:c.-65delA
  • NM_001407887.1:c.-65delA
  • NM_001407889.1:c.-181delA
  • NM_001407894.1:c.-65delA
  • NM_001407895.1:c.-65delA
  • NM_001407896.1:c.-65delA
  • NM_001407897.1:c.-65delA
  • NM_001407899.1:c.-65delA
  • NM_001407900.1:c.-181delA
  • NM_001407904.1:c.-65delA
  • NM_001407906.1:c.-65delA
  • NM_001407907.1:c.-65delA
  • NM_001407908.1:c.-65delA
  • NM_001407909.1:c.-65delA
  • NM_001407910.1:c.-65delA
  • NM_001407915.1:c.-65delA
  • NM_001407916.1:c.-65delA
  • NM_001407917.1:c.-65delA
  • NM_001407918.1:c.-65delA
  • NM_001407919.1:c.124delA
  • NM_001407920.1:c.-18delA
  • NM_001407921.1:c.-18delA
  • NM_001407922.1:c.-18delA
  • NM_001407923.1:c.-18delA
  • NM_001407926.1:c.-18delA
  • NM_001407927.1:c.-18delA
  • NM_001407930.1:c.-134delA
  • NM_001407933.1:c.-18delA
  • NM_001407934.1:c.-18delA
  • NM_001407935.1:c.-18delA
  • NM_001407937.1:c.124delA
  • NM_001407938.1:c.124delA
  • NM_001407939.1:c.124delA
  • NM_001407940.1:c.124delA
  • NM_001407941.1:c.124delA
  • NM_001407942.1:c.-134delA
  • NM_001407943.1:c.-18delA
  • NM_001407944.1:c.-18delA
  • NM_001407946.1:c.-65delA
  • NM_001407947.1:c.-65delA
  • NM_001407948.1:c.-65delA
  • NM_001407949.1:c.-65delA
  • NM_001407950.1:c.-65delA
  • NM_001407951.1:c.-65delA
  • NM_001407952.1:c.-65delA
  • NM_001407953.1:c.-65delA
  • NM_001407954.1:c.-65delA
  • NM_001407955.1:c.-65delA
  • NM_001407956.1:c.-65delA
  • NM_001407957.1:c.-65delA
  • NM_001407958.1:c.-65delA
  • NM_001407960.1:c.-180delA
  • NM_001407962.1:c.-180delA
  • NM_001407964.1:c.-18delA
  • NM_001407965.1:c.-296delA
  • NM_001407968.1:c.124delA
  • NM_001407969.1:c.124delA
  • NM_001407970.1:c.124delA
  • NM_001407971.1:c.124delA
  • NM_001407972.1:c.124delA
  • NM_001407973.1:c.124delA
  • NM_001407974.1:c.124delA
  • NM_001407975.1:c.124delA
  • NM_001407976.1:c.124delA
  • NM_001407977.1:c.124delA
  • NM_001407978.1:c.124delA
  • NM_001407979.1:c.124delA
  • NM_001407980.1:c.124delA
  • NM_001407981.1:c.124delA
  • NM_001407982.1:c.124delA
  • NM_001407983.1:c.124delA
  • NM_001407984.1:c.124delA
  • NM_001407985.1:c.124delA
  • NM_001407986.1:c.124delA
  • NM_001407990.1:c.124delA
  • NM_001407991.1:c.124delA
  • NM_001407992.1:c.124delA
  • NM_001407993.1:c.124delA
  • NM_001408392.1:c.124delA
  • NM_001408396.1:c.124delA
  • NM_001408397.1:c.124delA
  • NM_001408398.1:c.124delA
  • NM_001408399.1:c.124delA
  • NM_001408400.1:c.124delA
  • NM_001408401.1:c.124delA
  • NM_001408402.1:c.124delA
  • NM_001408403.1:c.124delA
  • NM_001408404.1:c.124delA
  • NM_001408406.1:c.124delA
  • NM_001408407.1:c.124delA
  • NM_001408408.1:c.124delA
  • NM_001408409.1:c.124delA
  • NM_001408410.1:c.-18delA
  • NM_001408411.1:c.124delA
  • NM_001408412.1:c.124delA
  • NM_001408413.1:c.124delA
  • NM_001408414.1:c.124delA
  • NM_001408415.1:c.124delA
  • NM_001408416.1:c.124delA
  • NM_001408418.1:c.124delA
  • NM_001408419.1:c.124delA
  • NM_001408420.1:c.124delA
  • NM_001408421.1:c.124delA
  • NM_001408422.1:c.124delA
  • NM_001408423.1:c.124delA
  • NM_001408424.1:c.124delA
  • NM_001408425.1:c.124delA
  • NM_001408426.1:c.124delA
  • NM_001408427.1:c.124delA
  • NM_001408428.1:c.124delA
  • NM_001408429.1:c.124delA
  • NM_001408430.1:c.124delA
  • NM_001408431.1:c.124delA
  • NM_001408432.1:c.124delA
  • NM_001408433.1:c.124delA
  • NM_001408434.1:c.124delA
  • NM_001408435.1:c.124delA
  • NM_001408436.1:c.124delA
  • NM_001408437.1:c.124delA
  • NM_001408438.1:c.124delA
  • NM_001408439.1:c.124delA
  • NM_001408440.1:c.124delA
  • NM_001408441.1:c.124delA
  • NM_001408442.1:c.124delA
  • NM_001408443.1:c.124delA
  • NM_001408444.1:c.124delA
  • NM_001408445.1:c.124delA
  • NM_001408446.1:c.124delA
  • NM_001408447.1:c.124delA
  • NM_001408448.1:c.124delA
  • NM_001408450.1:c.124delA
  • NM_001408452.1:c.-18delA
  • NM_001408453.1:c.-18delA
  • NM_001408455.1:c.-134delA
  • NM_001408456.1:c.-134delA
  • NM_001408458.1:c.-18delA
  • NM_001408462.1:c.-18delA
  • NM_001408463.1:c.-18delA
  • NM_001408465.1:c.-138delA
  • NM_001408466.1:c.-18delA
  • NM_001408468.1:c.-134delA
  • NM_001408469.1:c.-18delA
  • NM_001408470.1:c.-18delA
  • NM_001408472.1:c.124delA
  • NM_001408473.1:c.124delA
  • NM_001408474.1:c.124delA
  • NM_001408475.1:c.124delA
  • NM_001408476.1:c.124delA
  • NM_001408478.1:c.-65delA
  • NM_001408479.1:c.-65delA
  • NM_001408480.1:c.-65delA
  • NM_001408481.1:c.-65delA
  • NM_001408482.1:c.-65delA
  • NM_001408483.1:c.-65delA
  • NM_001408484.1:c.-65delA
  • NM_001408485.1:c.-65delA
  • NM_001408489.1:c.-65delA
  • NM_001408490.1:c.-65delA
  • NM_001408491.1:c.-65delA
  • NM_001408492.1:c.-181delA
  • NM_001408493.1:c.-65delA
  • NM_001408494.1:c.124delA
  • NM_001408495.1:c.124delA
  • NM_001408497.1:c.-18delA
  • NM_001408499.1:c.-18delA
  • NM_001408500.1:c.-18delA
  • NM_001408501.1:c.-134delA
  • NM_001408502.1:c.-65delA
  • NM_001408503.1:c.-18delA
  • NM_001408504.1:c.-18delA
  • NM_001408505.1:c.-18delA
  • NM_001408506.1:c.-65delA
  • NM_001408507.1:c.-65delA
  • NM_001408508.1:c.-65delA
  • NM_001408509.1:c.-65delA
  • NM_001408510.1:c.-180delA
  • NM_001408512.1:c.-180delA
  • NM_001408513.1:c.-65delA
  • NM_001408514.1:c.-65delA
  • NM_007294.4:c.124delMANE SELECT
  • NM_007297.4:c.-8+8281del
  • NM_007298.4:c.124delA
  • NM_007299.4:c.124del
  • NM_007300.4:c.124del
  • NM_007304.2:c.124delA
  • NP_001394510.1:p.Ile42Tyrfs
  • NP_001394511.1:p.Ile42Tyrfs
  • NP_001394512.1:p.Ile42Tyrfs
  • NP_001394514.1:p.Ile42Tyrfs
  • NP_001394516.1:p.Ile42Tyrfs
  • NP_001394519.1:p.Ile42Tyrfs
  • NP_001394520.1:p.Ile42Tyrfs
  • NP_001394522.1:p.Ile42Tyrfs
  • NP_001394523.1:p.Ile42Tyrfs
  • NP_001394525.1:p.Ile42Tyrfs
  • NP_001394526.1:p.Ile42Tyrfs
  • NP_001394527.1:p.Ile42Tyrfs
  • NP_001394531.1:p.Ile42Tyrfs
  • NP_001394532.1:p.Ile42Tyrfs
  • NP_001394534.1:p.Ile42Tyrfs
  • NP_001394539.1:p.Ile42Tyrfs
  • NP_001394540.1:p.Ile42Tyrfs
  • NP_001394541.1:p.Ile42Tyrfs
  • NP_001394542.1:p.Ile42Tyrfs
  • NP_001394543.1:p.Ile42Tyrfs
  • NP_001394544.1:p.Ile42Tyrfs
  • NP_001394545.1:p.Ile42Tyrfs
  • NP_001394546.1:p.Ile42Tyrfs
  • NP_001394547.1:p.Ile42Tyrfs
  • NP_001394548.1:p.Ile42Tyrfs
  • NP_001394549.1:p.Ile42Tyrfs
  • NP_001394550.1:p.Ile42Tyrfs
  • NP_001394551.1:p.Ile42Tyrfs
  • NP_001394552.1:p.Ile42Tyrfs
  • NP_001394553.1:p.Ile42Tyrfs
  • NP_001394554.1:p.Ile42Tyrfs
  • NP_001394555.1:p.Ile42Tyrfs
  • NP_001394556.1:p.Ile42Tyrfs
  • NP_001394557.1:p.Ile42Tyrfs
  • NP_001394558.1:p.Ile42Tyrfs
  • NP_001394559.1:p.Ile42Tyrfs
  • NP_001394560.1:p.Ile42Tyrfs
  • NP_001394561.1:p.Ile42Tyrfs
  • NP_001394562.1:p.Ile42Tyrfs
  • NP_001394563.1:p.Ile42Tyrfs
  • NP_001394564.1:p.Ile42Tyrfs
  • NP_001394565.1:p.Ile42Tyrfs
  • NP_001394566.1:p.Ile42Tyrfs
  • NP_001394567.1:p.Ile42Tyrfs
  • NP_001394568.1:p.Ile42Tyrfs
  • NP_001394569.1:p.Ile42Tyrfs
  • NP_001394570.1:p.Ile42Tyrfs
  • NP_001394571.1:p.Ile42Tyrfs
  • NP_001394573.1:p.Ile42Tyrfs
  • NP_001394574.1:p.Ile42Tyrfs
  • NP_001394575.1:p.Ile42Tyrfs
  • NP_001394576.1:p.Ile42Tyrfs
  • NP_001394577.1:p.Ile42Tyrfs
  • NP_001394578.1:p.Ile42Tyrfs
  • NP_001394581.1:p.Ile42Tyrfs
  • NP_001394582.1:p.Ile42Tyrfs
  • NP_001394583.1:p.Ile42Tyrfs
  • NP_001394584.1:p.Ile42Tyrfs
  • NP_001394585.1:p.Ile42Tyrfs
  • NP_001394586.1:p.Ile42Tyrfs
  • NP_001394587.1:p.Ile42Tyrfs
  • NP_001394588.1:p.Ile42Tyrfs
  • NP_001394589.1:p.Ile42Tyrfs
  • NP_001394590.1:p.Ile42Tyrfs
  • NP_001394591.1:p.Ile42Tyrfs
  • NP_001394592.1:p.Ile42Tyrfs
  • NP_001394593.1:p.Ile42Tyrfs
  • NP_001394594.1:p.Ile42Tyrfs
  • NP_001394595.1:p.Ile42Tyrfs
  • NP_001394596.1:p.Ile42Tyrfs
  • NP_001394597.1:p.Ile42Tyrfs
  • NP_001394598.1:p.Ile42Tyrfs
  • NP_001394599.1:p.Ile42Tyrfs
  • NP_001394600.1:p.Ile42Tyrfs
  • NP_001394601.1:p.Ile42Tyrfs
  • NP_001394602.1:p.Ile42Tyrfs
  • NP_001394603.1:p.Ile42Tyrfs
  • NP_001394604.1:p.Ile42Tyrfs
  • NP_001394605.1:p.Ile42Tyrfs
  • NP_001394606.1:p.Ile42Tyrfs
  • NP_001394607.1:p.Ile42Tyrfs
  • NP_001394608.1:p.Ile42Tyrfs
  • NP_001394609.1:p.Ile42Tyrfs
  • NP_001394610.1:p.Ile42Tyrfs
  • NP_001394611.1:p.Ile42Tyrfs
  • NP_001394612.1:p.Ile42Tyrfs
  • NP_001394613.1:p.Ile42Tyrfs
  • NP_001394614.1:p.Ile42Tyrfs
  • NP_001394615.1:p.Ile42Tyrfs
  • NP_001394616.1:p.Ile42Tyrfs
  • NP_001394617.1:p.Ile42Tyrfs
  • NP_001394618.1:p.Ile42Tyrfs
  • NP_001394619.1:p.Ile42Tyrfs
  • NP_001394620.1:p.Ile42Tyrfs
  • NP_001394783.1:p.Ile42Tyrfs
  • NP_001394787.1:p.Ile42Tyrfs
  • NP_001394788.1:p.Ile42Tyrfs
  • NP_001394789.1:p.Ile42Tyrfs
  • NP_001394790.1:p.Ile42Tyrfs
  • NP_001394791.1:p.Ile42Tyrfs
  • NP_001394792.1:p.Ile42Tyrfs
  • NP_001394803.1:p.Ile42Tyrfs
  • NP_001394804.1:p.Ile42Tyrfs
  • NP_001394848.1:p.Ile42Tyrfs
  • NP_001394866.1:p.Ile42Tyrfs
  • NP_001394867.1:p.Ile42Tyrfs
  • NP_001394868.1:p.Ile42Tyrfs
  • NP_001394869.1:p.Ile42Tyrfs
  • NP_001394870.1:p.Ile42Tyrfs
  • NP_001394897.1:p.Ile42Tyrfs
  • NP_001394898.1:p.Ile42Tyrfs
  • NP_001394899.1:p.Ile42Tyrfs
  • NP_001394900.1:p.Ile42Tyrfs
  • NP_001394901.1:p.Ile42Tyrfs
  • NP_001394902.1:p.Ile42Tyrfs
  • NP_001394903.1:p.Ile42Tyrfs
  • NP_001394904.1:p.Ile42Tyrfs
  • NP_001394905.1:p.Ile42Tyrfs
  • NP_001394906.1:p.Ile42Tyrfs
  • NP_001394907.1:p.Ile42Tyrfs
  • NP_001394908.1:p.Ile42Tyrfs
  • NP_001394909.1:p.Ile42Tyrfs
  • NP_001394910.1:p.Ile42Tyrfs
  • NP_001394911.1:p.Ile42Tyrfs
  • NP_001394912.1:p.Ile42Tyrfs
  • NP_001394913.1:p.Ile42Tyrfs
  • NP_001394914.1:p.Ile42Tyrfs
  • NP_001394915.1:p.Ile42Tyrfs
  • NP_001394919.1:p.Ile42Tyrfs
  • NP_001394920.1:p.Ile42Tyrfs
  • NP_001394921.1:p.Ile42Tyrfs
  • NP_001394922.1:p.Ile42Tyrfs
  • NP_001395321.1:p.Ile42Tyrfs
  • NP_001395325.1:p.Ile42Tyrfs
  • NP_001395326.1:p.Ile42Tyrfs
  • NP_001395327.1:p.Ile42Tyrfs
  • NP_001395328.1:p.Ile42Tyrfs
  • NP_001395329.1:p.Ile42Tyrfs
  • NP_001395330.1:p.Ile42Tyrfs
  • NP_001395331.1:p.Ile42Tyrfs
  • NP_001395332.1:p.Ile42Tyrfs
  • NP_001395333.1:p.Ile42Tyrfs
  • NP_001395335.1:p.Ile42Tyrfs
  • NP_001395336.1:p.Ile42Tyrfs
  • NP_001395337.1:p.Ile42Tyrfs
  • NP_001395338.1:p.Ile42Tyrfs
  • NP_001395340.1:p.Ile42Tyrfs
  • NP_001395341.1:p.Ile42Tyrfs
  • NP_001395342.1:p.Ile42Tyrfs
  • NP_001395343.1:p.Ile42Tyrfs
  • NP_001395344.1:p.Ile42Tyrfs
  • NP_001395345.1:p.Ile42Tyrfs
  • NP_001395347.1:p.Ile42Tyrfs
  • NP_001395348.1:p.Ile42Tyrfs
  • NP_001395349.1:p.Ile42Tyrfs
  • NP_001395350.1:p.Ile42Tyrfs
  • NP_001395351.1:p.Ile42Tyrfs
  • NP_001395352.1:p.Ile42Tyrfs
  • NP_001395353.1:p.Ile42Tyrfs
  • NP_001395354.1:p.Ile42Tyrfs
  • NP_001395355.1:p.Ile42Tyrfs
  • NP_001395356.1:p.Ile42Tyrfs
  • NP_001395357.1:p.Ile42Tyrfs
  • NP_001395358.1:p.Ile42Tyrfs
  • NP_001395359.1:p.Ile42Tyrfs
  • NP_001395360.1:p.Ile42Tyrfs
  • NP_001395361.1:p.Ile42Tyrfs
  • NP_001395362.1:p.Ile42Tyrfs
  • NP_001395363.1:p.Ile42Tyrfs
  • NP_001395364.1:p.Ile42Tyrfs
  • NP_001395365.1:p.Ile42Tyrfs
  • NP_001395366.1:p.Ile42Tyrfs
  • NP_001395367.1:p.Ile42Tyrfs
  • NP_001395368.1:p.Ile42Tyrfs
  • NP_001395369.1:p.Ile42Tyrfs
  • NP_001395370.1:p.Ile42Tyrfs
  • NP_001395371.1:p.Ile42Tyrfs
  • NP_001395372.1:p.Ile42Tyrfs
  • NP_001395373.1:p.Ile42Tyrfs
  • NP_001395374.1:p.Ile42Tyrfs
  • NP_001395375.1:p.Ile42Tyrfs
  • NP_001395376.1:p.Ile42Tyrfs
  • NP_001395377.1:p.Ile42Tyrfs
  • NP_001395379.1:p.Ile42Tyrfs
  • NP_001395401.1:p.Ile42Tyrfs
  • NP_001395402.1:p.Ile42Tyrfs
  • NP_001395403.1:p.Ile42Tyrfs
  • NP_001395404.1:p.Ile42Tyrfs
  • NP_001395405.1:p.Ile42Tyrfs
  • NP_001395423.1:p.Ile42Tyrfs
  • NP_001395424.1:p.Ile42Tyrfs
  • NP_009225.1:p.Ile42Tyrfs
  • NP_009225.1:p.Ile42fs
  • NP_009229.2:p.Ile42Tyrfs
  • NP_009229.2:p.Ile42fs
  • NP_009230.2:p.Ile42fs
  • NP_009231.2:p.Ile42fs
  • NP_009235.2:p.Ile42Tyrfs
  • LRG_292t1:c.124del
  • LRG_292:g.102248del
  • LRG_292p1:p.Ile42Tyrfs
  • NC_000017.10:g.41267753del
  • NC_000017.10:g.41267753delT
  • NM_007294.3:c.124delA
  • NM_007294.3:c.124delA
  • NM_007298.3:c.124del
  • NR_027676.2:n.326del
  • U14680.1:n.243delA
Protein change:
I42fs
Links:
Breast Cancer Information Core (BIC) (BRCA1): 243&base_change=del A; dbSNP: rs80357943
NCBI 1000 Genomes Browser:
rs80357943
Molecular consequence:
  • NM_001407581.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407582.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407583.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407585.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407587.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407590.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407591.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407593.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407594.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407596.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407597.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407598.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407602.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407603.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407605.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407610.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407611.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407612.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407613.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407614.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407615.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407616.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407617.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407618.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407619.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407620.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407621.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407622.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407623.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407624.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407625.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407626.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407627.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407628.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407629.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407630.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407631.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407632.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407633.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407634.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407635.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407636.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407637.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407638.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407639.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407640.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407641.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407642.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407644.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407645.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407646.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407647.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407648.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407649.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407652.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407653.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407654.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407655.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407656.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407657.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407658.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407659.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407660.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407661.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407662.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407663.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407664.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407665.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407666.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407667.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407668.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407669.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407670.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407671.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407672.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407673.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407674.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407675.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407676.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407677.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407678.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407679.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407680.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407681.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407682.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407683.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407684.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407685.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407686.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407687.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407688.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407689.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407690.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407691.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407854.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407858.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407859.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407860.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407861.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407862.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407863.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407874.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407875.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407919.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407937.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407938.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407939.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407940.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407941.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407968.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407969.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407970.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407971.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407972.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407973.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407974.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407975.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407976.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407977.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407978.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407979.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407980.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407981.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407982.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407983.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407984.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407985.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407986.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407990.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407991.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407992.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407993.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408392.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408396.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408397.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408398.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408399.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408400.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408401.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408402.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408403.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408404.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408406.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408407.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408408.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408409.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408411.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408412.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408413.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408414.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408415.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408416.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408418.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408419.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408420.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408421.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408422.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408423.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408424.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408425.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408426.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408427.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408428.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408429.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408430.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408431.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408432.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408433.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408434.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408435.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408436.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408437.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408438.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408439.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408440.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408441.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408442.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408443.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408444.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408445.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408446.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408447.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408448.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408450.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408472.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408473.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408474.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408475.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408476.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408494.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408495.1:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_007294.4:c.124del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_007298.4:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_007299.4:c.124del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_007300.4:c.124del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_007304.2:c.124delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_007297.4:c.-8+8281del - intron variant - [Sequence Ontology: SO:0001627]
  • NR_027676.2:n.326del - 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
SCV001167846GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)		Pathogenic
(Jul 13, 2020) 		germlineclinical testing

Citation Link,

SCV004238243Revvity Omics, Revvity
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(May 18, 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, SCV001167846.3

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

Description

Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed in large population cohorts (Lek et al., 2016); Truncating variants in this gene are considered pathogenic by a well-established clinical consortium and/or database; This variant is associated with the following publications: (PMID: 10644434, 21735045, 9150149, 21533383, 22362584, 12845657, 10371344, 20625817, 18528753, 30199306)

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

From Revvity Omics, Revvity, SCV004238243.1

#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: Nov 10, 2024