NM_133261.3:c.122C>A

  1. Home
  2. NM_133261.3:c.122C>A

HGVS Expressions

  • NG_031943.1:g.5149C>A
  • NM_133261.3:c.122C>A
  • NP_573568.1:p.Thr41Lys
  • NC_000019.10:g.3585719C>A

Associated Genes

GIPC PDZ Domain-Containing Family, Member 3
Back to search Result
Clinvar Clinical Significance

Likely Pathogenic, Pathogenic

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

727503062

Clinvar

163502

Epidemiology in the Arab World

View Map
Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
601869.1.1Saudi Arabia2Likely PathogenicDeafness, Autosomal Recessive 15Almontashiri et al. 2018 Proband from "family F-15" in the public...
601869.1.GSaudi Arabia3Almontashiri et al. 2018 Relatives of 601869.1.1 (parents+sister)
Download Table

Contributors

  • Asha Deepthi: 10.06.2025

Edit History

  • Asha Deepthi: 10.06.2025
Back to search Result
© CAGS 2025. All rights reserved.
© CAGS 2025. All rights reserved.