NM_182548.4:c.472C>T

  1. Home
  2. NM_182548.4:c.472C>T

HGVS Expressions

  • NG_012184.1:g.14312C>T
  • NM_182548.4:c.472C>T
  • NP_872354.1:p.Arg158Trp
  • NC_000006.12:g.35814605C>T

Associated Genes

LHFP-Like Protein 5
Back to search Result
Clinvar Clinical Significance

Uncertain Significance

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

753739358

Clinvar

505548

Epidemiology in the Arab World

View Map
Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
610185.1.1United Arab Emirates; Yem...2Likely PathogenicDeafness, Autosomal Recessive 67Komara et al. 2016 Emirati family of Yemeni origin
610185.1.2United Arab Emirates; Yem...1Komara et al. 2016 Sibling of 610185.1.1
Download Table

Contributors

  • Pratibha Nair: 22.04.2021

Edit History

  • Sayeeda Hana: 07.12.2022
  • Pratibha Nair: 22.04.2021
Back to search Result
© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.