NM_000108.5:c.1436A>T

  1. Home
  2. NM_000108.5:c.1436A>T

HGVS Expressions

  • NG_008045.1:g.32931A>T
  • NM_000108.5:c.1436A>T
  • NP_000099.2:p.Asp479Val
  • NC_000007.14:g.107919071A>T

Associated Genes

Dihydrolipoamide Dehydrogenase
Back to search Result
Clinvar Clinical Significance

Likely Pathogenic

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

397514649

Clinvar

40186

Epidemiology in the Arab World

View Map
Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
246900.3Palestine2Likely PathogenicDihydrolipoamide Dehydrogenase DeficiencyAl-Jasmi et al. 2016
246900.4Palestine2Likely PathogenicDihydrolipoamide Dehydrogenase DeficiencyAl-Jasmi et al. 2016
Download Table

Contributors

  • Pratibha Nair: 30.06.2022

Edit History

  • Pratibha Nair: 30.06.2022
Back to search Result
© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.