NM_024884.3:c.241A>G

  1. Home
  2. NM_024884.3:c.241A>G

HGVS Expressions

  • NG_008092.1:g.14313A>G
  • NM_024884.3:c.241A>G
  • NP_079160.1:p.Lys81Glu

Associated Genes

L-2-Hydroxyglutarate Dehydrogenase
Back to search Result
Genomic Location

chr14:50302917

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

970541687

Epidemiology in the Arab World

View Map
Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
236792.4Tunisia2Likely PathogenicL-2-Hydroxyglutaric AciduriaRzem et al, 2004 Unaffected parents and sibling
Download Table

Contributors

  • Pratibha Nair: 05.02.2020

Edit History

  • Rahila Mir: 14.02.2022
  • Pratibha Nair: 05.02.2020
Back to search Result
© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.