NM_001286577.1:c.184C>T

HGVS Expressions

  • NG_041791.1:g.7535C>T
  • NM_001286577.1:c.184C>T
  • NP_001273506.1:p.Arg62Ter
Back to search Result
Genomic Location

chr11:74168485

Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Clinvar

144038

Epidemiology in the Arab World

View Map
Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
615948.1.1Lebanon2PathogenicOrofaciodigital Syndrome XIVThauvin-Robinet et al, 2014 Proband
615948.1.2Lebanon2PathogenicOrofaciodigital Syndrome XIVThauvin-Robinet et al, 2014 Sister of 615948.1.1
615948.1.3Lebanon1PathogenicThauvin-Robinet et al, 2014 Father of 615948.1.1
615948.1.4Lebanon1PathogenicThauvin-Robinet et al, 2014 Mother of 615948.1.1
© CAGS 2024. All rights reserved.