NM_014241.4:c.373_375+2del

  1. Home
  2. NM_014241.4:c.373_375+2del

HGVS Expressions

  • NG_041789.1:g.18443_18447del
  • NM_014241.4:c.373_375+2del
  • NP_055056.3:p.?
  • NC_000010.11:g.17603929_17603933del

Associated Genes

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

Likely Pathogenic

Variant Type

Deletion

Epidemiology in the Arab World

View Map
Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
255310.2Iraq2Likely PathogenicMyopathy, Congenital, NonprogressiveAbbasi-Moheb et al. 2021 Proband
Download Table

Contributors

  • Sami Bizzari: 19.01.2022

Edit History

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