NM_000059.4:c.4342_4343del

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HGVS Expressions

  • NG_012772.3:g.28218_28219
  • NM_000059.4:c.4342_4343del
  • NC_000013.11:g.32338697_32338698del

Associated Genes

BRCA2 Gene
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Deletion

Clinvar

1240291

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
167000.1Lebanon1PathogenicOvarian CancerEl-Khoury et al. 2019 Mother and older sister died of ovarian ...
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Contributors

  • Pratibha Nair: 13.10.2020

Edit History

  • Sami Bizzari: 22.09.2021
  • Pratibha Nair: 13.10.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.