NM_000059.4:c.8023A>G

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  2. NM_000059.4:c.8023A>G

HGVS Expressions

  • NG_012772.3:g.52746A>G
  • NM_000059.4:c.8023A>G
  • NP_000050.3:p.Ile2675Val
  • NC_000013.11:g.32363225A>G

Associated Genes

BRCA2 Gene
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

397507954

Clinvar

52475

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
612555.8United Arab EmiratesLikely PathogenicBreast-Ovarian Cancer, Familial, Susceptibility To, 2Al-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.