NM_001079827.2:c.494C>A

  1. Home
  2. NM_001079827.2:c.494C>A

HGVS Expressions

  • NM_001079827.2:c.494C>A
  • NP_001073296.1:p.Thr165Lys
  • NC_000004.12:g.17526877C>A

Associated Genes

Clarin 2
Back to search Result
Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

1711990645

Clinvar

996040

Epidemiology in the Arab World

View Map
Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
619174.G.1United Arab EmiratesNA0.00002Likely PathogenicDeafness, Autosomal Recessive 117Vona et al. 2021 Unknown number of patients
Download Table

Contributors

  • Asha Deepthi: 13.05.2022

Edit History

  • Asha Deepthi: 13.05.2022
Back to search Result
© CAGS 2023. All rights reserved.
© CAGS 2023. All rights reserved.