NM_001030311.2:c.999C>A

HGVS Expressions

  • NG_021178.2:g.113276C>A
  • NM_001030311.2:c.999C>A
  • NP_001025482.1:p.Cys333Ter
  • NC_000002.12:g.181548832G>T

Associated Genes

Ceramide Kinase-Like
Back to search Result
Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Clinvar

979002

Epidemiology in the Arab World

View Map
Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
608380.G.1Saudi Arabia4PathogenicRetinitis Pigmentosa 26Patel et al, 2018 2 family members
© CAGS 2024. All rights reserved.