NM_138691.2:c.1810C>T

  1. Home
  2. NM_138691.2:c.1810C>T

HGVS Expressions

  • NG_008213.1:g.304088C>T
  • NM_138691.2:c.1810C>T
  • NP_619636.2:p.Arg604Ter
  • NC_000009.12:g.72820888C>T

Associated Genes

Transmembrane Channel-Like Protein 1
Back to search Result
Clinvar Clinical Significance

Likely Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

777777359

Clinvar

242394

Epidemiology in the Arab World

View Map
Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
600974.2.1Morocco1PathogenicDeafness, Autosomal Recessive 7Brownstein et al. 2011 Proband
600974.2.4Morocco1PathogenicBrownstein et al. 2011 Unaffected father of 600974.2.1
Download Table

Contributors

  • Sayeeda Hana: 11.09.2019

Edit History

  • Pratibha Nair: 22.11.2022
  • Sayeeda Hana: 13.09.2019
  • Sayeeda Hana: 12.09.2019
  • Sayeeda Hana: 11.09.2019
Back to search Result
© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.