NM_000059.4:c.8052_8053dup

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HGVS Expressions

  • NG_012772.3:g.52775_52776dup
  • NM_000059.4:c.8052_8053dup
  • NP_000050.3:p.Thr2685fs

Associated Genes

BRCA2 Gene
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Genomic Location

chr13:32363254_32363255dup

Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Duplication

dbSNP

397507958

Clinvar

495101

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
114480.64Lebanon1PathogenicBreast CancerEl-Khoury et al. 2019 Mother had breast cancer. Sister found t...
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Contributors

  • Pratibha Nair: 13.10.2020

Edit History

  • Pratibha Nair: 13.10.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.