NM_000059.4:c.2254_2257del

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HGVS Expressions

  • NG_012772.3:g.26130_26133del
  • NM_000059.4:c.2254_2257del
  • NP_000050.3:p.Asp752PhefsTer19
  • NC_000013.11:g.32336609_32336612del

Associated Genes

BRCA2 Gene
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Deletion

dbSNP

80359326

Clinvar

51260

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
612555.3PalestineLikely PathogenicProstate CancerAl-Ali et al. 2023
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Contributors

  • Pratibha Nair: 24.01.2024

Edit History

  • Pratibha Nair: 24.01.2024
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.