NM_016346.4:c.931C>T

HGVS Expressions

  • NG_009113.2:g.8018C>T
  • NM_016346.4:c.931C>T
  • NP_057430.1:p.Arg311Trp
Back to search Result
Genomic Location

chr15:71813572

Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Clinvar

422071

Epidemiology in the Arab World

View Map
Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
268100.G.3Saudi Arabia6PathogenicEnhanced S-Cone SyndromePatel et al, 2018 3 members of a family
© CAGS 2024. All rights reserved.