NM_000059.4:c.7007G>A

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HGVS Expressions

  • NG_012772.3:g.36417G>A
  • NM_000059.4:c.7007G>A
  • NP_000050.3:p.Arg2336His
  • NC_000013.11:g.32346896G>A

Associated Genes

BRCA2 Gene
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Likely Pathogenic, Pathogenic

Variant Type

Substitution

dbSNP

28897743

Clinvar

38077

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
612555.6IraqLikely PathogenicBreast-Ovarian Cancer, Familial, Susceptibility To, 2Al-Ali et al. 2023
613029.2Saudi Arabia2PathogenicGlioma Susceptibility 3Shaheen et al. 2019
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Contributors

  • Sayeeda Hana: 08.01.2022

Edit History

  • Pratibha Nair: 24.01.2024
  • Pratibha Nair: 10.11.2022
  • Sayeeda Hana: 20.01.2022
  • Sayeeda Hana: 08.01.2022
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.