NM_000023.4:c.292C>T

  1. Home
  2. NM_000023.4:c.292C>T

HGVS Expressions

  • NG_008889.1:g.6712C>T
  • NM_000023.4:c.292C>T
  • NP_000014.1:p.Arg98Cys
  • NC_000017.11:g.50167716C>T

Associated Genes

Sarcoglycan, Alpha
Back to search Result
Clinvar Clinical Significance

Likely Pathogenic, Pathogenic

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

138945081

Clinvar

284708

Epidemiology in the Arab World

View Map
Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
608099.1United Arab Emirates2NALikely PathogenicMuscular Dystrophy, Limb-Girdle, Autosomal Recessive 3Mahfouz et al. 2020
Download Table

Contributors

  • Asha Deepthi: 20.07.2022

Edit History

  • Asha Deepthi: 20.07.2022
Back to search Result
© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.