NM_138425.4:c.53-2A>G

HGVS Expressions

  • NG_034262.1:g.5658A>G
  • NM_138425.4:c.53-2A>G
  • NC_000012.12:g.6944474A>G
Back to search Result
Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Likely Pathogenic, Pathogenic

Variant Type

Substitution

Clinvar

242885

Epidemiology in the Arab World

View Map
Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
218340.5Saudi Arabia2PathogenicTemtamy SyndromeAlrakaf et al. 2018
218340.6Saudi Arabia2PathogenicTemtamy SyndromeAlrakaf et al. 2018
218340.7Saudi Arabia2PathogenicTemtamy SyndromeAlrakaf et al. 2018
218340.19Saudi Arabia2Likely PathogenicTemtamy SyndromeMonies et al. 2019
218340.20.1Saudi Arabia2Likely PathogenicTemtamy SyndromeCharng et al. 2016 Proband from 'family 024' in the publica...
218340.20.2Saudi Arabia1Charng et al. 2016 Father of 218340.20.1
218340.20.3Saudi Arabia1Charng et al. 2016 Mother of 218340.20.1
218340.28Saudi Arabia2PathogenicTemtamy SyndromeMonies et al. 2017
© CAGS 2024. All rights reserved.