NM_014241.3:c.458G>A

  1. Home
  2. NM_014241.3:c.458G>A

HGVS Expressions

  • NG_041789.1:g.18790G>A
  • NM_014241.3:c.458G>A
  • NP_055056.3:p.Trp153Ter
  • NC_000010.11:g.17603585C>T

Associated Genes

3-Hydroxyacyl-Coa Dehydratase 1
Back to search Result
Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

Clinvar

1698408

Epidemiology in the Arab World

View Map
Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
255310.1United Arab Emirates2Likely PathogenicMyopathy, Congenital, NonprogressiveAbbasi-Moheb et al. 2021 Proband
Download Table

Contributors

  • Sami Bizzari: 19.01.2022

Edit History

  • Pratibha Nair: 04.01.2023
  • Pratibha Nair: 29.09.2022
  • Rahila Mir: 07.02.2022
  • Sami Bizzari: 19.01.2022
Back to search Result
© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.