NM_016648.4:c.503_504dup

HGVS Expressions

  • NG_032779.1:g.14943_14944dup
  • NM_016648.4:c.503_504dup
  • NP_057732.2:p.Ala169LeufsTer37
  • NC_000004.12:g.112646906_112646907dup
Back to search Result
Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Duplication

Clinvar

523643

Epidemiology in the Arab World

View Map
Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
615071.3.1Algeria2Likely PathogenicAlazami SyndromeImbert-Bouteille et al. 2019
615071.3.2Algeria2Likely PathogenicAlazami SyndromeImbert-Bouteille et al. 2019 Sibling of 615071.3.1
© CAGS 2022. All rights reserved.