NM_000059.4:c.3807T>C

HGVS Expressions

  • NG_012772.3:g.27683T>C
  • NM_000059.4:c.3807T>C
  • NP_000050.3:p.Val1269=

Associated Genes

BRCA2 Gene
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Genomic Location

chr13:32338162

Clinvar Clinical Significance

Benign

CTGA Clinical Significance

Benign

Variant Type

Substitution

dbSNP

543304

Clinvar

126022

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
114480.G.1.37LebanonBenignBreast CancerJalkh et al, 2012 13 unrelated patients with breast cancer
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