NM_000059.4:c.8377G>A

HGVS Expressions

  • NG_012772.3:g.59968G>A
  • NM_000059.4:c.8377G>A
  • NP_000050.2:p.Gly2793Arg
  • NC_000013.11:g.32370447G>A

Associated Genes

BRCA2 Gene
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Clinvar Clinical Significance

Likely Pathogenic, Pathogenic, Uncertain Significance

CTGA Clinical Significance

Uncertain Significance

Variant Type

Substitution

Clinvar

52569

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
114480.107Lebanon0.4Uncertain SignificanceBreast CancerEl Saghir et al. 2015 Patient with stage III ductal carcinoma
114480.108Lebanon0.4Uncertain SignificanceBreast CancerEl Saghir et al. 2015 Patient with stage II ductal carcinoma
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