NM_181458.4:c.449C>A

HGVS Expressions

  • NG_011632.1:g.8452C>A
  • NM_181458.4:c.449C>A
  • NP_852123.1:p.Ser150Ter
  • NC_000002.12:g.222295530G>T

Associated Genes

Paired Box Gene 3
Back to search Result
CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

Epidemiology in the Arab World

View Map
Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
193500.1Saudi Arabia1Likely PathogenicWaardenburg Syndrome, Type 1Monies et al. 2017
© CAGS 2025. All rights reserved.