NM_024513.4:c.2505del

HGVS Expressions

  • NG_031955.1:g.33996del
  • NM_024513.4:c.2505del
  • NP_078789.2:p.Ala836ProfsTer80
  • NC_000003.12:g.45966830del
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Deletion

Clinvar

660217

Epidemiology in the Arab World

View Map
Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
610019.1.1Saudi Arabia2PathogenicCataract 18Khan et al. 2012; Aldahmesh et al. 2012; Patel et al. 2017 Proband
610019.1.2Saudi Arabia2PathogenicCataract 18Khan et al. 2012; Aldahmesh et al. 2012; Patel et al. 2017 Sister of 610019.1.1
610019.1.3Saudi Arabia1Khan et al. 2012; Aldahmesh et al. 2012 Father of 610019.1.1
610019.1.4Saudi Arabia1Khan et al. 2012; Aldahmesh et al. 2012 Mother of 610019.1.1
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