NM_000059.4:c.7669G>A

HGVS Expressions

  • NG_012772.3:g.47314G>A
  • NM_000059.4:c.7669G>A
  • NP_000050.2:p.Ala2557Thr
  • NC_000013.11:g.32357793G>A

Associated Genes

BRCA2 Gene
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Clinvar Clinical Significance

Uncertain Significance

CTGA Clinical Significance

Uncertain Significance

Variant Type

Substitution

Clinvar

230545

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
114480.106.1Lebanon0.4Uncertain SignificanceBreast CancerEl Saghir et al. 2015 Patient with stage I ductal carcinoma
114480.106.2Lebanon0.4Uncertain SignificanceBreast CancerEl Saghir et al. 2015 Sister of 114480.106.1, patient with sta...
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