NM_004425.4:c.806G>A

HGVS Expressions

  • NG_012062.1:g.8544G>A
  • NM_004425.4:c.806G>A
  • NP_004416.2:p.Cys269Tyr
  • NC_000001.11:g.150511554G>A
Back to search Result
Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Clinvar

1192520

Epidemiology in the Arab World

View Map
Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
247100.5.1Saudi Arabia2PathogenicLipoid Proteinosis of Urbach and WietheSalih et al. 2011
247100.5.2Saudi Arabia2PathogenicLipoid Proteinosis of Urbach and WietheSalih et al. 2011 Sister of 247100.5.1
© CAGS 2024. All rights reserved.