NM_145649.5:c.1046A>G

HGVS Expressions

  • NG_007469.3:g.139222A>G
  • NM_145649.5:c.1046A>G
  • NP_663624.1:p.Tyr349Cys
  • NC_000006.12:g.10626444A>G
Back to search Result
Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Clinvar

844536

Epidemiology in the Arab World

View Map
Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
116700.1.1Saudi Arabia2PathogenicCataract 13 With Adult i PhenotypeKhan et al. 2015; Aldahmesh et al. 2012; Patel et al. 2017 Patient had "lensectomy and anterior vit...
116700.1.2Saudi Arabia2PathogenicCataract 13 With Adult i PhenotypeKhan et al. 2015; Aldahmesh et al. 2012; Patel et al. 2017 Sister of 116700.1.1. Patient had "lense...
116700.1.G.1Saudi Arabia3Khan et al. 2015; Aldahmesh et al. 2012 Father, mother and sibling of 116700.1.1...
© CAGS 2024. All rights reserved.