NM_001363.5:c.5C>T

HGVS Expressions

  • NG_009780.1:g.5215C>T
  • NM_001363.5:c.5C>T
  • NP_001354.1:p.Ala2Val
  • NC_000023.11:g.154762970C>T

Associated Genes

Dyskerin
Back to search Result
Clinvar Clinical Significance

Likely Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Clinvar

38951

Epidemiology in the Arab World

View Map
Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
305000.G.1United Arab EmiratesPathogenicDyskeratosis Congenita, X-linkedKnight et al. 1999 Multiplex Emirati family with unknown nu...
© CAGS 2024. All rights reserved.