NM_000059.4:c.2971A>G

HGVS Expressions

  • NG_012772.3:g.26847A>G
  • NM_000059.4:c.2971A>G
  • NP_000050.3:p.Asn991Asp

Associated Genes

BRCA2 Gene
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Genomic Location

chr13:32337326

Clinvar Clinical Significance

Benign

CTGA Clinical Significance

Benign

Variant Type

Substitution

dbSNP

1799944

Clinvar

41545

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
114480.G.1.26LebanonBenignBreast CancerJalkh et al, 2012 2 unrelated patients with breast cancer
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