NM_000059.4:c.1114A>C

HGVS Expressions

  • NG_012772.3:g.22113A>C
  • NM_000059.4:c.1114A>C
  • NP_000050.3:p.Asn372His

Associated Genes

BRCA2 Gene
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Genomic Location

chr13:32332592

Clinvar Clinical Significance

Benign

CTGA Clinical Significance

Association, Benign

Variant Type

Substitution

dbSNP

144848

Clinvar

9329

Epidemiology in the Arab World

View Map
Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
114480.29LebanonAssociationBreast CancerJalkh et al, 2017 Patient 'B23' from family 4 in the publi...
114480.G.1.42LebanonBenignBreast CancerJalkh et al, 2012 20 unrelated patients with breast cancer
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