NM_001146079.2:c.414G>A

HGVS Expressions

  • NG_011777.1:g.120288G>A
  • NM_001146079.2:c.414G>A
  • NP_001139551.1:p.Trp138Ter
  • NC_000021.9:g.36461282C>T

Associated Genes

Claudin 14
Back to search Result
Clinvar Clinical Significance

Likely Pathogenic

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

Clinvar

1810013

Epidemiology in the Arab World

View Map
Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
614035.2.1Yemen2Likely PathogenicDeafness, Autosomal Recessive 29Mohamed et al. 2019 Proband from "family YMN I" in the publi...
614035.2.2Yemen2Likely PathogenicDeafness, Autosomal Recessive 29Mohamed et al. 2019 Sister of 614035.2.1. Patient has anothe...
614035.2.3Yemen1Mohamed et al. 2019 Father of 614035.2.1
614035.2.4Yemen1Mohamed et al. 2019 Mother of 614035.2.1
614035.3.1Yemen2Likely PathogenicDeafness, Autosomal Recessive 29Mohamed et al. 2019 Proband from "family YMN II" in the publ...
614035.3.2Yemen1Mohamed et al. 2019 Father of 614035.3.1
614035.3.3Yemen1Mohamed et al. 2019 Mother of 614035.3.1
614035.4.1Yemen2Likely PathogenicDeafness, Autosomal Recessive 29Mohamed et al. 2019 Proband from "family YMN III" in the pub...
614035.4.2Yemen2Likely PathogenicDeafness, Autosomal Recessive 29Mohamed et al. 2019 Sister of 614035.4.1
614035.4.3Yemen1Mohamed et al. 2019 Mother of 614035.4.1
614035.3.GYemen4Likely PathogenicDeafness, Autosomal Recessive 29Mohamed et al. 2019 Two affected sisters of 614035.3.1
© CAGS 2025. All rights reserved.