NM_016648.4:c.1024_1030dup

HGVS Expressions

  • NG_032779.1:g.15753_15759dup
  • NM_016648.4:c.1024_1030dup
  • NP_057732.2:p.Thr344LysfsTer9
  • NC_000004.12:g.112647716_112647722dup
Back to search Result
Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Duplication

Clinvar

39615

Epidemiology in the Arab World

View Map
Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
615071.2.1Saudi Arabia2PathogenicAlazami SyndromeAlazami et al. 2012
615071.2.2Saudi Arabia2PathogenicAlazami SyndromeAlazami et al. 2012 Sibling of 615071.2.1
615071.2.3Saudi Arabia2PathogenicAlazami SyndromeAlazami et al. 2012 Relative of 615071.2.1
615071.2.4Saudi Arabia2PathogenicAlazami SyndromeAlazami et al. 2012 Sibling of 615071.2.3
615071.2.5Saudi Arabia2PathogenicAlazami SyndromeAlazami et al. 2012 Sibling of 615071.2.3
615071.2.6Saudi Arabia2PathogenicAlazami SyndromeAlazami et al. 2012 Relative of 615071.2.1
615071.2.7Saudi Arabia2PathogenicAlazami SyndromeAlazami et al. 2012 Sibling of 615071.2.6
615071.2.8Saudi Arabia2PathogenicAlazami SyndromeAlazami et al. 2012 Sibling of 615071.2.6
615071.2.9Saudi Arabia2PathogenicAlazami SyndromeAlazami et al. 2012 Sibling of 615071.2.6
© CAGS 2022. All rights reserved.