NM_000382.2:c.682C>T

  1. Home
  2. NM_000382.2:c.682C>T

HGVS Expressions

  • NG_007095.2:g.13996C>T
  • NM_000382.2:c.682C>T
  • NP_000373.1:p.Arg228Cys
  • NC_000017.11:g.19657746C>T

Associated Genes

Aldehyde Dehydrogenase, Family 3, Subfamily A, Member 2
Back to search Result
Clinvar Clinical Significance

Likely Pathogenic, Pathogenic

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

72547566

Clinvar

556574

Epidemiology in the Arab World

View Map
Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
270200.4United Arab Emirates2Likely PathogenicSjogren-Larsson SyndromeAlabdullatif et al. 2017 2 similarly affected sisters
Download Table

Contributors

  • Pratibha Nair: 28.06.2022

Edit History

  • Pratibha Nair: 04.01.2023
  • Pratibha Nair: 28.06.2022
Back to search Result
© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.