NM_000059.4:c.658_659del

HGVS Expressions

  • NG_012772.3:g.18990_18991del
  • NM_000059.4:c.658_659del
  • NP_000050.3:p.Val220fs

Associated Genes

BRCA2 Gene
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Genomic Location

chr13:32329469-32329470

Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Deletion

Clinvar

9342

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
114480.45LebanonPathogenicBreast CancerJalkh et al, 2017 Patient 'B41' from family 18 in the publ...
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