U.S. flag

An official website of the United States government

NM_007294.4(BRCA1):c.190_211del (p.Cys64fs) AND Breast-ovarian cancer, familial, susceptibility to, 1

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Oct 18, 2016
Review status:
3 stars out of maximum of 4 stars
reviewed by expert panel
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:
RCV000257762.3

Allele description [Variation Report for NM_007294.4(BRCA1):c.190_211del (p.Cys64fs)]

NM_007294.4(BRCA1):c.190_211del (p.Cys64fs)

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.190_211del (p.Cys64fs)
Other names:
309del22
HGVS:
  • NC_000017.11:g.43106458_43106479del
  • NG_005905.2:g.111506_111527del
  • NM_001407581.1:c.189_210del22
  • NM_001407582.1:c.189_210del22
  • NM_001407583.1:c.189_210del22
  • NM_001407585.1:c.189_210del22
  • NM_001407587.1:c.189_210del22
  • NM_001407590.1:c.189_210del22
  • NM_001407591.1:c.189_210del22
  • NM_001407593.1:c.189_210del22
  • NM_001407594.1:c.189_210del22
  • NM_001407596.1:c.189_210del22
  • NM_001407597.1:c.189_210del22
  • NM_001407598.1:c.189_210del22
  • NM_001407602.1:c.189_210del22
  • NM_001407603.1:c.189_210del22
  • NM_001407605.1:c.189_210del22
  • NM_001407610.1:c.189_210del22
  • NM_001407611.1:c.189_210del22
  • NM_001407612.1:c.189_210del22
  • NM_001407613.1:c.189_210del22
  • NM_001407614.1:c.189_210del22
  • NM_001407615.1:c.189_210del22
  • NM_001407616.1:c.189_210del22
  • NM_001407617.1:c.189_210del22
  • NM_001407618.1:c.189_210del22
  • NM_001407619.1:c.189_210del22
  • NM_001407620.1:c.189_210del22
  • NM_001407621.1:c.189_210del22
  • NM_001407622.1:c.189_210del22
  • NM_001407623.1:c.189_210del22
  • NM_001407624.1:c.189_210del22
  • NM_001407625.1:c.189_210del22
  • NM_001407626.1:c.189_210del22
  • NM_001407627.1:c.189_210del22
  • NM_001407628.1:c.189_210del22
  • NM_001407629.1:c.189_210del22
  • NM_001407630.1:c.189_210del22
  • NM_001407631.1:c.189_210del22
  • NM_001407632.1:c.189_210del22
  • NM_001407633.1:c.189_210del22
  • NM_001407634.1:c.189_210del22
  • NM_001407635.1:c.189_210del22
  • NM_001407636.1:c.189_210del22
  • NM_001407637.1:c.189_210del22
  • NM_001407638.1:c.189_210del22
  • NM_001407639.1:c.189_210del22
  • NM_001407640.1:c.189_210del22
  • NM_001407641.1:c.189_210del22
  • NM_001407642.1:c.189_210del22
  • NM_001407644.1:c.189_210del22
  • NM_001407645.1:c.189_210del22
  • NM_001407646.1:c.189_210del22
  • NM_001407647.1:c.189_210del22
  • NM_001407648.1:c.189_210del22
  • NM_001407649.1:c.189_210del22
  • NM_001407652.1:c.189_210del22
  • NM_001407664.1:c.189_210del22
  • NM_001407665.1:c.189_210del22
  • NM_001407666.1:c.189_210del22
  • NM_001407667.1:c.189_210del22
  • NM_001407668.1:c.189_210del22
  • NM_001407669.1:c.189_210del22
  • NM_001407670.1:c.189_210del22
  • NM_001407671.1:c.189_210del22
  • NM_001407672.1:c.189_210del22
  • NM_001407673.1:c.189_210del22
  • NM_001407674.1:c.189_210del22
  • NM_001407675.1:c.189_210del22
  • NM_001407676.1:c.189_210del22
  • NM_001407677.1:c.189_210del22
  • NM_001407678.1:c.189_210del22
  • NM_001407679.1:c.189_210del22
  • NM_001407680.1:c.189_210del22
  • NM_001407681.1:c.189_210del22
  • NM_001407682.1:c.189_210del22
  • NM_001407683.1:c.189_210del22
  • NM_001407684.1:c.189_210del22
  • NM_001407685.1:c.189_210del22
  • NM_001407686.1:c.189_210del22
  • NM_001407687.1:c.189_210del22
  • NM_001407688.1:c.189_210del22
  • NM_001407689.1:c.189_210del22
  • NM_001407690.1:c.189_210del22
  • NM_001407691.1:c.189_210del22
  • NM_001407692.1:c.48_69del22
  • NM_001407694.1:c.48_69del22
  • NM_001407695.1:c.48_69del22
  • NM_001407696.1:c.48_69del22
  • NM_001407697.1:c.48_69del22
  • NM_001407698.1:c.48_69del22
  • NM_001407724.1:c.48_69del22
  • NM_001407725.1:c.48_69del22
  • NM_001407726.1:c.48_69del22
  • NM_001407727.1:c.48_69del22
  • NM_001407728.1:c.48_69del22
  • NM_001407729.1:c.48_69del22
  • NM_001407730.1:c.48_69del22
  • NM_001407731.1:c.48_69del22
  • NM_001407732.1:c.48_69del22
  • NM_001407733.1:c.48_69del22
  • NM_001407734.1:c.48_69del22
  • NM_001407735.1:c.48_69del22
  • NM_001407736.1:c.48_69del22
  • NM_001407737.1:c.48_69del22
  • NM_001407738.1:c.48_69del22
  • NM_001407739.1:c.48_69del22
  • NM_001407740.1:c.48_69del22
  • NM_001407741.1:c.48_69del22
  • NM_001407742.1:c.48_69del22
  • NM_001407743.1:c.48_69del22
  • NM_001407744.1:c.48_69del22
  • NM_001407745.1:c.48_69del22
  • NM_001407746.1:c.48_69del22
  • NM_001407747.1:c.48_69del22
  • NM_001407748.1:c.48_69del22
  • NM_001407749.1:c.48_69del22
  • NM_001407750.1:c.48_69del22
  • NM_001407751.1:c.48_69del22
  • NM_001407752.1:c.48_69del22
  • NM_001407838.1:c.48_69del22
  • NM_001407839.1:c.48_69del22
  • NM_001407841.1:c.48_69del22
  • NM_001407842.1:c.48_69del22
  • NM_001407843.1:c.48_69del22
  • NM_001407844.1:c.48_69del22
  • NM_001407845.1:c.48_69del22
  • NM_001407846.1:c.48_69del22
  • NM_001407847.1:c.48_69del22
  • NM_001407848.1:c.48_69del22
  • NM_001407849.1:c.48_69del22
  • NM_001407850.1:c.48_69del22
  • NM_001407851.1:c.48_69del22
  • NM_001407852.1:c.48_69del22
  • NM_001407854.1:c.189_210del22
  • NM_001407858.1:c.189_210del22
  • NM_001407859.1:c.189_210del22
  • NM_001407860.1:c.189_210del22
  • NM_001407861.1:c.189_210del22
  • NM_001407863.1:c.189_210del22
  • NM_001407919.1:c.189_210del22
  • NM_001407920.1:c.48_69del22
  • NM_001407921.1:c.48_69del22
  • NM_001407922.1:c.48_69del22
  • NM_001407923.1:c.48_69del22
  • NM_001407924.1:c.48_69del22
  • NM_001407925.1:c.48_69del22
  • NM_001407926.1:c.48_69del22
  • NM_001407927.1:c.48_69del22
  • NM_001407928.1:c.48_69del22
  • NM_001407929.1:c.48_69del22
  • NM_001407930.1:c.48_69del22
  • NM_001407931.1:c.48_69del22
  • NM_001407932.1:c.48_69del22
  • NM_001407933.1:c.48_69del22
  • NM_001407934.1:c.48_69del22
  • NM_001407935.1:c.48_69del22
  • NM_001407936.1:c.48_69del22
  • NM_001407937.1:c.189_210del22
  • NM_001407938.1:c.189_210del22
  • NM_001407939.1:c.189_210del22
  • NM_001407940.1:c.189_210del22
  • NM_001407941.1:c.189_210del22
  • NM_001407942.1:c.48_69del22
  • NM_001407943.1:c.48_69del22
  • NM_001407944.1:c.48_69del22
  • NM_001407945.1:c.48_69del22
  • NM_001407964.1:c.48_69del22
  • NM_001407968.1:c.189_210del22
  • NM_001407969.1:c.189_210del22
  • NM_001407970.1:c.189_210del22
  • NM_001407971.1:c.189_210del22
  • NM_001407972.1:c.189_210del22
  • NM_001407973.1:c.189_210del22
  • NM_001407974.1:c.189_210del22
  • NM_001407975.1:c.189_210del22
  • NM_001407976.1:c.189_210del22
  • NM_001407977.1:c.189_210del22
  • NM_001407978.1:c.189_210del22
  • NM_001407979.1:c.189_210del22
  • NM_001407980.1:c.189_210del22
  • NM_001407981.1:c.189_210del22
  • NM_001407982.1:c.189_210del22
  • NM_001407983.1:c.189_210del22
  • NM_001407984.1:c.189_210del22
  • NM_001407985.1:c.189_210del22
  • NM_001407986.1:c.189_210del22
  • NM_001407990.1:c.189_210del22
  • NM_001407991.1:c.189_210del22
  • NM_001407992.1:c.189_210del22
  • NM_001407993.1:c.189_210del22
  • NM_001408392.1:c.189_210del22
  • NM_001408396.1:c.189_210del22
  • NM_001408397.1:c.189_210del22
  • NM_001408398.1:c.189_210del22
  • NM_001408399.1:c.189_210del22
  • NM_001408400.1:c.189_210del22
  • NM_001408401.1:c.189_210del22
  • NM_001408402.1:c.189_210del22
  • NM_001408403.1:c.189_210del22
  • NM_001408404.1:c.189_210del22
  • NM_001408406.1:c.189_210del22
  • NM_001408407.1:c.189_210del22
  • NM_001408408.1:c.189_210del22
  • NM_001408410.1:c.48_69del22
  • NM_001408418.1:c.189_210del22
  • NM_001408419.1:c.189_210del22
  • NM_001408420.1:c.189_210del22
  • NM_001408421.1:c.189_210del22
  • NM_001408422.1:c.189_210del22
  • NM_001408423.1:c.189_210del22
  • NM_001408424.1:c.189_210del22
  • NM_001408425.1:c.189_210del22
  • NM_001408426.1:c.189_210del22
  • NM_001408427.1:c.189_210del22
  • NM_001408428.1:c.189_210del22
  • NM_001408429.1:c.189_210del22
  • NM_001408430.1:c.189_210del22
  • NM_001408431.1:c.189_210del22
  • NM_001408432.1:c.189_210del22
  • NM_001408433.1:c.189_210del22
  • NM_001408434.1:c.189_210del22
  • NM_001408435.1:c.189_210del22
  • NM_001408436.1:c.189_210del22
  • NM_001408437.1:c.189_210del22
  • NM_001408438.1:c.189_210del22
  • NM_001408439.1:c.189_210del22
  • NM_001408440.1:c.189_210del22
  • NM_001408441.1:c.189_210del22
  • NM_001408442.1:c.189_210del22
  • NM_001408443.1:c.189_210del22
  • NM_001408444.1:c.189_210del22
  • NM_001408445.1:c.189_210del22
  • NM_001408446.1:c.189_210del22
  • NM_001408447.1:c.189_210del22
  • NM_001408448.1:c.189_210del22
  • NM_001408450.1:c.189_210del22
  • NM_001408452.1:c.48_69del22
  • NM_001408453.1:c.48_69del22
  • NM_001408454.1:c.48_69del22
  • NM_001408455.1:c.48_69del22
  • NM_001408456.1:c.48_69del22
  • NM_001408457.1:c.48_69del22
  • NM_001408458.1:c.48_69del22
  • NM_001408459.1:c.48_69del22
  • NM_001408460.1:c.48_69del22
  • NM_001408461.1:c.48_69del22
  • NM_001408462.1:c.48_69del22
  • NM_001408463.1:c.48_69del22
  • NM_001408464.1:c.48_69del22
  • NM_001408465.1:c.48_69del22
  • NM_001408466.1:c.48_69del22
  • NM_001408467.1:c.48_69del22
  • NM_001408468.1:c.48_69del22
  • NM_001408469.1:c.48_69del22
  • NM_001408470.1:c.48_69del22
  • NM_001408472.1:c.189_210del22
  • NM_001408473.1:c.189_210del22
  • NM_001408494.1:c.189_210del22
  • NM_001408495.1:c.189_210del22
  • NM_001408496.1:c.48_69del22
  • NM_001408497.1:c.48_69del22
  • NM_001408498.1:c.48_69del22
  • NM_001408499.1:c.48_69del22
  • NM_001408500.1:c.48_69del22
  • NM_001408501.1:c.48_69del22
  • NM_001408503.1:c.48_69del22
  • NM_001408504.1:c.48_69del22
  • NM_001408505.1:c.48_69del22
  • NM_001408511.1:c.48_69del22
  • NM_007294.4:c.190_211delMANE SELECT
  • NM_007297.4:c.49_70del
  • NM_007298.4:c.189_210del22
  • NM_007299.4:c.190_211del
  • NM_007300.4:c.190_211del
  • NM_007304.2:c.189_210del22
  • NP_001394510.1:p.Cys64Glyfs
  • NP_001394511.1:p.Cys64Glyfs
  • NP_001394512.1:p.Cys64Glyfs
  • NP_001394514.1:p.Cys64Glyfs
  • NP_001394516.1:p.Cys64Glyfs
  • NP_001394519.1:p.Cys64Glyfs
  • NP_001394520.1:p.Cys64Glyfs
  • NP_001394522.1:p.Cys64Glyfs
  • NP_001394523.1:p.Cys64Glyfs
  • NP_001394525.1:p.Cys64Glyfs
  • NP_001394526.1:p.Cys64Glyfs
  • NP_001394527.1:p.Cys64Glyfs
  • NP_001394531.1:p.Cys64Glyfs
  • NP_001394532.1:p.Cys64Glyfs
  • NP_001394534.1:p.Cys64Glyfs
  • NP_001394539.1:p.Cys64Glyfs
  • NP_001394540.1:p.Cys64Glyfs
  • NP_001394541.1:p.Cys64Glyfs
  • NP_001394542.1:p.Cys64Glyfs
  • NP_001394543.1:p.Cys64Glyfs
  • NP_001394544.1:p.Cys64Glyfs
  • NP_001394545.1:p.Cys64Glyfs
  • NP_001394546.1:p.Cys64Glyfs
  • NP_001394547.1:p.Cys64Glyfs
  • NP_001394548.1:p.Cys64Glyfs
  • NP_001394549.1:p.Cys64Glyfs
  • NP_001394550.1:p.Cys64Glyfs
  • NP_001394551.1:p.Cys64Glyfs
  • NP_001394552.1:p.Cys64Glyfs
  • NP_001394553.1:p.Cys64Glyfs
  • NP_001394554.1:p.Cys64Glyfs
  • NP_001394555.1:p.Cys64Glyfs
  • NP_001394556.1:p.Cys64Glyfs
  • NP_001394557.1:p.Cys64Glyfs
  • NP_001394558.1:p.Cys64Glyfs
  • NP_001394559.1:p.Cys64Glyfs
  • NP_001394560.1:p.Cys64Glyfs
  • NP_001394561.1:p.Cys64Glyfs
  • NP_001394562.1:p.Cys64Glyfs
  • NP_001394563.1:p.Cys64Glyfs
  • NP_001394564.1:p.Cys64Glyfs
  • NP_001394565.1:p.Cys64Glyfs
  • NP_001394566.1:p.Cys64Glyfs
  • NP_001394567.1:p.Cys64Glyfs
  • NP_001394568.1:p.Cys64Glyfs
  • NP_001394569.1:p.Cys64Glyfs
  • NP_001394570.1:p.Cys64Glyfs
  • NP_001394571.1:p.Cys64Glyfs
  • NP_001394573.1:p.Cys64Glyfs
  • NP_001394574.1:p.Cys64Glyfs
  • NP_001394575.1:p.Cys64Glyfs
  • NP_001394576.1:p.Cys64Glyfs
  • NP_001394577.1:p.Cys64Glyfs
  • NP_001394578.1:p.Cys64Glyfs
  • NP_001394581.1:p.Cys64Glyfs
  • NP_001394593.1:p.Cys64Glyfs
  • NP_001394594.1:p.Cys64Glyfs
  • NP_001394595.1:p.Cys64Glyfs
  • NP_001394596.1:p.Cys64Glyfs
  • NP_001394597.1:p.Cys64Glyfs
  • NP_001394598.1:p.Cys64Glyfs
  • NP_001394599.1:p.Cys64Glyfs
  • NP_001394600.1:p.Cys64Glyfs
  • NP_001394601.1:p.Cys64Glyfs
  • NP_001394602.1:p.Cys64Glyfs
  • NP_001394603.1:p.Cys64Glyfs
  • NP_001394604.1:p.Cys64Glyfs
  • NP_001394605.1:p.Cys64Glyfs
  • NP_001394606.1:p.Cys64Glyfs
  • NP_001394607.1:p.Cys64Glyfs
  • NP_001394608.1:p.Cys64Glyfs
  • NP_001394609.1:p.Cys64Glyfs
  • NP_001394610.1:p.Cys64Glyfs
  • NP_001394611.1:p.Cys64Glyfs
  • NP_001394612.1:p.Cys64Glyfs
  • NP_001394613.1:p.Cys64Glyfs
  • NP_001394614.1:p.Cys64Glyfs
  • NP_001394615.1:p.Cys64Glyfs
  • NP_001394616.1:p.Cys64Glyfs
  • NP_001394617.1:p.Cys64Glyfs
  • NP_001394618.1:p.Cys64Glyfs
  • NP_001394619.1:p.Cys64Glyfs
  • NP_001394620.1:p.Cys64Glyfs
  • NP_001394621.1:p.Cys17Glyfs
  • NP_001394623.1:p.Cys17Glyfs
  • NP_001394624.1:p.Cys17Glyfs
  • NP_001394625.1:p.Cys17Glyfs
  • NP_001394626.1:p.Cys17Glyfs
  • NP_001394627.1:p.Cys17Glyfs
  • NP_001394653.1:p.Cys17Glyfs
  • NP_001394654.1:p.Cys17Glyfs
  • NP_001394655.1:p.Cys17Glyfs
  • NP_001394656.1:p.Cys17Glyfs
  • NP_001394657.1:p.Cys17Glyfs
  • NP_001394658.1:p.Cys17Glyfs
  • NP_001394659.1:p.Cys17Glyfs
  • NP_001394660.1:p.Cys17Glyfs
  • NP_001394661.1:p.Cys17Glyfs
  • NP_001394662.1:p.Cys17Glyfs
  • NP_001394663.1:p.Cys17Glyfs
  • NP_001394664.1:p.Cys17Glyfs
  • NP_001394665.1:p.Cys17Glyfs
  • NP_001394666.1:p.Cys17Glyfs
  • NP_001394667.1:p.Cys17Glyfs
  • NP_001394668.1:p.Cys17Glyfs
  • NP_001394669.1:p.Cys17Glyfs
  • NP_001394670.1:p.Cys17Glyfs
  • NP_001394671.1:p.Cys17Glyfs
  • NP_001394672.1:p.Cys17Glyfs
  • NP_001394673.1:p.Cys17Glyfs
  • NP_001394674.1:p.Cys17Glyfs
  • NP_001394675.1:p.Cys17Glyfs
  • NP_001394676.1:p.Cys17Glyfs
  • NP_001394677.1:p.Cys17Glyfs
  • NP_001394678.1:p.Cys17Glyfs
  • NP_001394679.1:p.Cys17Glyfs
  • NP_001394680.1:p.Cys17Glyfs
  • NP_001394681.1:p.Cys17Glyfs
  • NP_001394767.1:p.Cys17Glyfs
  • NP_001394768.1:p.Cys17Glyfs
  • NP_001394770.1:p.Cys17Glyfs
  • NP_001394771.1:p.Cys17Glyfs
  • NP_001394772.1:p.Cys17Glyfs
  • NP_001394773.1:p.Cys17Glyfs
  • NP_001394774.1:p.Cys17Glyfs
  • NP_001394775.1:p.Cys17Glyfs
  • NP_001394776.1:p.Cys17Glyfs
  • NP_001394777.1:p.Cys17Glyfs
  • NP_001394778.1:p.Cys17Glyfs
  • NP_001394779.1:p.Cys17Glyfs
  • NP_001394780.1:p.Cys17Glyfs
  • NP_001394781.1:p.Cys17Glyfs
  • NP_001394783.1:p.Cys64Glyfs
  • NP_001394787.1:p.Cys64Glyfs
  • NP_001394788.1:p.Cys64Glyfs
  • NP_001394789.1:p.Cys64Glyfs
  • NP_001394790.1:p.Cys64Glyfs
  • NP_001394792.1:p.Cys64Glyfs
  • NP_001394848.1:p.Cys64Glyfs
  • NP_001394849.1:p.Cys17Glyfs
  • NP_001394850.1:p.Cys17Glyfs
  • NP_001394851.1:p.Cys17Glyfs
  • NP_001394852.1:p.Cys17Glyfs
  • NP_001394853.1:p.Cys17Glyfs
  • NP_001394854.1:p.Cys17Glyfs
  • NP_001394855.1:p.Cys17Glyfs
  • NP_001394856.1:p.Cys17Glyfs
  • NP_001394857.1:p.Cys17Glyfs
  • NP_001394858.1:p.Cys17Glyfs
  • NP_001394859.1:p.Cys17Glyfs
  • NP_001394860.1:p.Cys17Glyfs
  • NP_001394861.1:p.Cys17Glyfs
  • NP_001394862.1:p.Cys17Glyfs
  • NP_001394863.1:p.Cys17Glyfs
  • NP_001394864.1:p.Cys17Glyfs
  • NP_001394865.1:p.Cys17Glyfs
  • NP_001394866.1:p.Cys64Glyfs
  • NP_001394867.1:p.Cys64Glyfs
  • NP_001394868.1:p.Cys64Glyfs
  • NP_001394869.1:p.Cys64Glyfs
  • NP_001394870.1:p.Cys64Glyfs
  • NP_001394871.1:p.Cys17Glyfs
  • NP_001394872.1:p.Cys17Glyfs
  • NP_001394873.1:p.Cys17Glyfs
  • NP_001394874.1:p.Cys17Glyfs
  • NP_001394893.1:p.Cys17Glyfs
  • NP_001394897.1:p.Cys64Glyfs
  • NP_001394898.1:p.Cys64Glyfs
  • NP_001394899.1:p.Cys64Glyfs
  • NP_001394900.1:p.Cys64Glyfs
  • NP_001394901.1:p.Cys64Glyfs
  • NP_001394902.1:p.Cys64Glyfs
  • NP_001394903.1:p.Cys64Glyfs
  • NP_001394904.1:p.Cys64Glyfs
  • NP_001394905.1:p.Cys64Glyfs
  • NP_001394906.1:p.Cys64Glyfs
  • NP_001394907.1:p.Cys64Glyfs
  • NP_001394908.1:p.Cys64Glyfs
  • NP_001394909.1:p.Cys64Glyfs
  • NP_001394910.1:p.Cys64Glyfs
  • NP_001394911.1:p.Cys64Glyfs
  • NP_001394912.1:p.Cys64Glyfs
  • NP_001394913.1:p.Cys64Glyfs
  • NP_001394914.1:p.Cys64Glyfs
  • NP_001394915.1:p.Cys64Glyfs
  • NP_001394919.1:p.Cys64Glyfs
  • NP_001394920.1:p.Cys64Glyfs
  • NP_001394921.1:p.Cys64Glyfs
  • NP_001394922.1:p.Cys64Glyfs
  • NP_001395321.1:p.Cys64Glyfs
  • NP_001395325.1:p.Cys64Glyfs
  • NP_001395326.1:p.Cys64Glyfs
  • NP_001395327.1:p.Cys64Glyfs
  • NP_001395328.1:p.Cys64Glyfs
  • NP_001395329.1:p.Cys64Glyfs
  • NP_001395330.1:p.Cys64Glyfs
  • NP_001395331.1:p.Cys64Glyfs
  • NP_001395332.1:p.Cys64Glyfs
  • NP_001395333.1:p.Cys64Glyfs
  • NP_001395335.1:p.Cys64Glyfs
  • NP_001395336.1:p.Cys64Glyfs
  • NP_001395337.1:p.Cys64Glyfs
  • NP_001395339.1:p.Cys17Glyfs
  • NP_001395347.1:p.Cys64Glyfs
  • NP_001395348.1:p.Cys64Glyfs
  • NP_001395349.1:p.Cys64Glyfs
  • NP_001395350.1:p.Cys64Glyfs
  • NP_001395351.1:p.Cys64Glyfs
  • NP_001395352.1:p.Cys64Glyfs
  • NP_001395353.1:p.Cys64Glyfs
  • NP_001395354.1:p.Cys64Glyfs
  • NP_001395355.1:p.Cys64Glyfs
  • NP_001395356.1:p.Cys64Glyfs
  • NP_001395357.1:p.Cys64Glyfs
  • NP_001395358.1:p.Cys64Glyfs
  • NP_001395359.1:p.Cys64Glyfs
  • NP_001395360.1:p.Cys64Glyfs
  • NP_001395361.1:p.Cys64Glyfs
  • NP_001395362.1:p.Cys64Glyfs
  • NP_001395363.1:p.Cys64Glyfs
  • NP_001395364.1:p.Cys64Glyfs
  • NP_001395365.1:p.Cys64Glyfs
  • NP_001395366.1:p.Cys64Glyfs
  • NP_001395367.1:p.Cys64Glyfs
  • NP_001395368.1:p.Cys64Glyfs
  • NP_001395369.1:p.Cys64Glyfs
  • NP_001395370.1:p.Cys64Glyfs
  • NP_001395371.1:p.Cys64Glyfs
  • NP_001395372.1:p.Cys64Glyfs
  • NP_001395373.1:p.Cys64Glyfs
  • NP_001395374.1:p.Cys64Glyfs
  • NP_001395375.1:p.Cys64Glyfs
  • NP_001395376.1:p.Cys64Glyfs
  • NP_001395377.1:p.Cys64Glyfs
  • NP_001395379.1:p.Cys64Glyfs
  • NP_001395381.1:p.Cys17Glyfs
  • NP_001395382.1:p.Cys17Glyfs
  • NP_001395383.1:p.Cys17Glyfs
  • NP_001395384.1:p.Cys17Glyfs
  • NP_001395385.1:p.Cys17Glyfs
  • NP_001395386.1:p.Cys17Glyfs
  • NP_001395387.1:p.Cys17Glyfs
  • NP_001395388.1:p.Cys17Glyfs
  • NP_001395389.1:p.Cys17Glyfs
  • NP_001395390.1:p.Cys17Glyfs
  • NP_001395391.1:p.Cys17Glyfs
  • NP_001395392.1:p.Cys17Glyfs
  • NP_001395393.1:p.Cys17Glyfs
  • NP_001395394.1:p.Cys17Glyfs
  • NP_001395395.1:p.Cys17Glyfs
  • NP_001395396.1:p.Cys17Glyfs
  • NP_001395397.1:p.Cys17Glyfs
  • NP_001395398.1:p.Cys17Glyfs
  • NP_001395399.1:p.Cys17Glyfs
  • NP_001395401.1:p.Cys64Glyfs
  • NP_001395402.1:p.Cys64Glyfs
  • NP_001395423.1:p.Cys64Glyfs
  • NP_001395424.1:p.Cys64Glyfs
  • NP_001395425.1:p.Cys17Glyfs
  • NP_001395426.1:p.Cys17Glyfs
  • NP_001395427.1:p.Cys17Glyfs
  • NP_001395428.1:p.Cys17Glyfs
  • NP_001395429.1:p.Cys17Glyfs
  • NP_001395430.1:p.Cys17Glyfs
  • NP_001395432.1:p.Cys17Glyfs
  • NP_001395433.1:p.Cys17Glyfs
  • NP_001395434.1:p.Cys17Glyfs
  • NP_001395440.1:p.Cys17Glyfs
  • NP_009225.1:p.Cys64Glyfs
  • NP_009225.1:p.Cys64fs
  • NP_009225.1:p.Cys64fs
  • NP_009228.2:p.Cys17fs
  • NP_009229.2:p.Cys64Glyfs
  • NP_009229.2:p.Cys64fs
  • NP_009230.2:p.Cys64fs
  • NP_009231.2:p.Cys64fs
  • NP_009235.2:p.Cys64Glyfs
  • LRG_292t1:c.190_211del
  • LRG_292:g.111506_111527del
  • LRG_292p1:p.Cys64fs
  • NC_000017.10:g.41258475_41258496del
  • NM_007294.3:c.189_210del22
  • NM_007294.3:c.190_211del
  • NM_007298.3:c.190_211del
  • p.Cys64fs
Protein change:
C17fs
Links:
dbSNP: rs886039978
NCBI 1000 Genomes Browser:
rs886039978
Molecular consequence:
  • NM_001407581.1:c.189_210del22 - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407582.1:c.189_210del22 - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407583.1:c.189_210del22 - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407585.1:c.189_210del22 - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407587.1:c.189_210del22 - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407590.1:c.189_210del22 - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407591.1:c.189_210del22 - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407593.1:c.189_210del22 - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407594.1:c.189_210del22 - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407596.1:c.189_210del22 - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407597.1:c.189_210del22 - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407598.1:c.189_210del22 - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407602.1:c.189_210del22 - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407603.1:c.189_210del22 - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407605.1:c.189_210del22 - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407610.1:c.189_210del22 - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407611.1:c.189_210del22 - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407612.1:c.189_210del22 - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407613.1:c.189_210del22 - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407614.1:c.189_210del22 - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407615.1:c.189_210del22 - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407616.1:c.189_210del22 - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407617.1:c.189_210del22 - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407618.1:c.189_210del22 - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407619.1:c.189_210del22 - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407620.1:c.189_210del22 - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407621.1:c.189_210del22 - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407622.1:c.189_210del22 - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407623.1:c.189_210del22 - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407624.1:c.189_210del22 - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407625.1:c.189_210del22 - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407626.1:c.189_210del22 - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407627.1:c.189_210del22 - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407628.1:c.189_210del22 - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407629.1:c.189_210del22 - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407630.1:c.189_210del22 - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407631.1:c.189_210del22 - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407632.1:c.189_210del22 - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407633.1:c.189_210del22 - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407634.1:c.189_210del22 - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407635.1:c.189_210del22 - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407636.1:c.189_210del22 - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407637.1:c.189_210del22 - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407638.1:c.189_210del22 - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407639.1:c.189_210del22 - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407640.1:c.189_210del22 - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407641.1:c.189_210del22 - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407642.1:c.189_210del22 - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407644.1:c.189_210del22 - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407645.1:c.189_210del22 - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407646.1:c.189_210del22 - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407647.1:c.189_210del22 - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407648.1:c.189_210del22 - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407649.1:c.189_210del22 - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407652.1:c.189_210del22 - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407664.1:c.189_210del22 - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407665.1:c.189_210del22 - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407666.1:c.189_210del22 - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407667.1:c.189_210del22 - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407668.1:c.189_210del22 - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407669.1:c.189_210del22 - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407670.1:c.189_210del22 - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407671.1:c.189_210del22 - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407672.1:c.189_210del22 - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407673.1:c.189_210del22 - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407674.1:c.189_210del22 - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407675.1:c.189_210del22 - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407676.1:c.189_210del22 - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407677.1:c.189_210del22 - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407678.1:c.189_210del22 - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407679.1:c.189_210del22 - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407680.1:c.189_210del22 - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407681.1:c.189_210del22 - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407682.1:c.189_210del22 - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407683.1:c.189_210del22 - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407684.1:c.189_210del22 - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407685.1:c.189_210del22 - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407686.1:c.189_210del22 - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407687.1:c.189_210del22 - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407688.1:c.189_210del22 - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407689.1:c.189_210del22 - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407690.1:c.189_210del22 - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407691.1:c.189_210del22 - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407692.1:c.48_69del22 - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407694.1:c.48_69del22 - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407695.1:c.48_69del22 - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407696.1:c.48_69del22 - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407697.1:c.48_69del22 - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407698.1:c.48_69del22 - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407724.1:c.48_69del22 - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407725.1:c.48_69del22 - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407726.1:c.48_69del22 - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407727.1:c.48_69del22 - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407728.1:c.48_69del22 - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407729.1:c.48_69del22 - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407730.1:c.48_69del22 - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407731.1:c.48_69del22 - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407732.1:c.48_69del22 - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407733.1:c.48_69del22 - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407734.1:c.48_69del22 - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407735.1:c.48_69del22 - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407736.1:c.48_69del22 - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407737.1:c.48_69del22 - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407738.1:c.48_69del22 - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407739.1:c.48_69del22 - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407740.1:c.48_69del22 - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407741.1:c.48_69del22 - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407742.1:c.48_69del22 - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407743.1:c.48_69del22 - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407744.1:c.48_69del22 - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407745.1:c.48_69del22 - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407746.1:c.48_69del22 - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407747.1:c.48_69del22 - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407748.1:c.48_69del22 - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407749.1:c.48_69del22 - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407750.1:c.48_69del22 - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407751.1:c.48_69del22 - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407752.1:c.48_69del22 - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407838.1:c.48_69del22 - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407839.1:c.48_69del22 - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407841.1:c.48_69del22 - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407842.1:c.48_69del22 - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407843.1:c.48_69del22 - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407844.1:c.48_69del22 - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407845.1:c.48_69del22 - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407846.1:c.48_69del22 - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407847.1:c.48_69del22 - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407848.1:c.48_69del22 - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407849.1:c.48_69del22 - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407850.1:c.48_69del22 - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407851.1:c.48_69del22 - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407852.1:c.48_69del22 - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407854.1:c.189_210del22 - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407858.1:c.189_210del22 - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407859.1:c.189_210del22 - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407860.1:c.189_210del22 - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407861.1:c.189_210del22 - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407863.1:c.189_210del22 - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407919.1:c.189_210del22 - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407920.1:c.48_69del22 - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407921.1:c.48_69del22 - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407922.1:c.48_69del22 - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407923.1:c.48_69del22 - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407924.1:c.48_69del22 - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407925.1:c.48_69del22 - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407926.1:c.48_69del22 - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407927.1:c.48_69del22 - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407928.1:c.48_69del22 - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407929.1:c.48_69del22 - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407930.1:c.48_69del22 - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407931.1:c.48_69del22 - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407932.1:c.48_69del22 - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407933.1:c.48_69del22 - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407934.1:c.48_69del22 - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407935.1:c.48_69del22 - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407936.1:c.48_69del22 - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407937.1:c.189_210del22 - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407938.1:c.189_210del22 - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407939.1:c.189_210del22 - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407940.1:c.189_210del22 - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407941.1:c.189_210del22 - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407942.1:c.48_69del22 - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407943.1:c.48_69del22 - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407944.1:c.48_69del22 - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407945.1:c.48_69del22 - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407964.1:c.48_69del22 - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407968.1:c.189_210del22 - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407969.1:c.189_210del22 - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407970.1:c.189_210del22 - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407971.1:c.189_210del22 - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407972.1:c.189_210del22 - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407973.1:c.189_210del22 - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407974.1:c.189_210del22 - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407975.1:c.189_210del22 - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407976.1:c.189_210del22 - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407977.1:c.189_210del22 - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407978.1:c.189_210del22 - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407979.1:c.189_210del22 - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407980.1:c.189_210del22 - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407981.1:c.189_210del22 - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407982.1:c.189_210del22 - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407983.1:c.189_210del22 - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407984.1:c.189_210del22 - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407985.1:c.189_210del22 - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407986.1:c.189_210del22 - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407990.1:c.189_210del22 - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407991.1:c.189_210del22 - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407992.1:c.189_210del22 - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407993.1:c.189_210del22 - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408392.1:c.189_210del22 - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408396.1:c.189_210del22 - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408397.1:c.189_210del22 - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408398.1:c.189_210del22 - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408399.1:c.189_210del22 - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408400.1:c.189_210del22 - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408401.1:c.189_210del22 - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408402.1:c.189_210del22 - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408403.1:c.189_210del22 - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408404.1:c.189_210del22 - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408406.1:c.189_210del22 - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408407.1:c.189_210del22 - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408408.1:c.189_210del22 - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408410.1:c.48_69del22 - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408418.1:c.189_210del22 - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408419.1:c.189_210del22 - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408420.1:c.189_210del22 - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408421.1:c.189_210del22 - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408422.1:c.189_210del22 - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408423.1:c.189_210del22 - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408424.1:c.189_210del22 - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408425.1:c.189_210del22 - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408426.1:c.189_210del22 - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408427.1:c.189_210del22 - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408428.1:c.189_210del22 - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408429.1:c.189_210del22 - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408430.1:c.189_210del22 - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408431.1:c.189_210del22 - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408432.1:c.189_210del22 - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408433.1:c.189_210del22 - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408434.1:c.189_210del22 - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408435.1:c.189_210del22 - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408436.1:c.189_210del22 - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408437.1:c.189_210del22 - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408438.1:c.189_210del22 - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408439.1:c.189_210del22 - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408440.1:c.189_210del22 - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408441.1:c.189_210del22 - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408442.1:c.189_210del22 - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408443.1:c.189_210del22 - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408444.1:c.189_210del22 - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408445.1:c.189_210del22 - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408446.1:c.189_210del22 - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408447.1:c.189_210del22 - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408448.1:c.189_210del22 - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408450.1:c.189_210del22 - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408452.1:c.48_69del22 - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408453.1:c.48_69del22 - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408454.1:c.48_69del22 - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408455.1:c.48_69del22 - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408456.1:c.48_69del22 - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408457.1:c.48_69del22 - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408458.1:c.48_69del22 - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408459.1:c.48_69del22 - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408460.1:c.48_69del22 - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408461.1:c.48_69del22 - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408462.1:c.48_69del22 - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408463.1:c.48_69del22 - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408464.1:c.48_69del22 - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408465.1:c.48_69del22 - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408466.1:c.48_69del22 - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408467.1:c.48_69del22 - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408468.1:c.48_69del22 - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408469.1:c.48_69del22 - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408470.1:c.48_69del22 - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408472.1:c.189_210del22 - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408473.1:c.189_210del22 - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408494.1:c.189_210del22 - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408495.1:c.189_210del22 - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408496.1:c.48_69del22 - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408497.1:c.48_69del22 - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408498.1:c.48_69del22 - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408499.1:c.48_69del22 - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408500.1:c.48_69del22 - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408501.1:c.48_69del22 - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408503.1:c.48_69del22 - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408504.1:c.48_69del22 - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408505.1:c.48_69del22 - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408511.1:c.48_69del22 - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_007294.4:c.190_211del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_007297.4:c.49_70del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_007298.4:c.189_210del22 - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_007299.4:c.190_211del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_007300.4:c.190_211del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_007304.2:c.189_210del22 - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Breast-ovarian cancer, familial, susceptibility to, 1 (BROVCA1)
Synonyms:
OVARIAN CANCER, SUSCEPTIBILITY TO; Breast-ovarian cancer, familial 1; Breast cancer, familial 1
Identifiers:
MONDO: MONDO:0011450; MedGen: C2676676; Orphanet: 145; OMIM: 604370

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000323368Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA)
reviewed by expert panel

(ENIGMA BRCA1/2 Classification Criteria (2015))		Pathogenic
(Oct 18, 2016) 		germlinecuration

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedcuration

Details of each submission

From Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA), SCV000323368.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcurationnot provided

Description

Variant allele predicted to encode a truncated non-functional protein.

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

Last Updated: Mar 30, 2024