NM_000053.3:c.2108G>A

HGVS Expressions

  • NG_008806.1:g.56334G>A
  • NM_000053.3:c.2108G>A
  • NP_000044.2:p.Cys703Tyr
  • NC_000013.11:g.51960161C>T
Back to search Result
Clinvar Clinical Significance

Likely Pathogenic, Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Clinvar

1177269

Epidemiology in the Arab World

View Map
Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
277900.21Egypt2PathogenicWilson DiseaseAbdelghaffar et al. 2008 Wilson Disease
277900.G.15Egypt4PathogenicWilson DiseaseAbdelghaffar et al. 2008 2 patients with Wilson Disease
© CAGS 2024. All rights reserved.