NM_000059.4:c.3971del

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HGVS Expressions

  • NG_012772.3:g.27847del
  • NM_000059.4:c.3971del
  • NP_000050.3:p.Tyr1324fs
  • NC_000013.11:g.32338326del

Associated Genes

BRCA2 Gene
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Deletion

dbSNP

1593901067

Clinvar

647777

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
114480.82Lebanon10.2PathogenicBreast CancerEl Saghir et al. 2015 Patient with stage III ductal carcinoma
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Contributors

  • Asha Deepthi: 14.01.2021

Edit History

  • Asha Deepthi: 17.01.2021
  • Asha Deepthi: 14.01.2021
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.