NM_000159.4:c.848T>C

  1. Home
  2. NM_000159.4:c.848T>C

HGVS Expressions

  • NG_009292.1:g.10258T>C
  • NM_000159.4:c.848T>C
  • NP_000150.1:p.Leu283Pro
  • NC_000019.10:g.12896417T>C

Associated Genes

Glutaryl-CoA Dehydrogenase
Back to search Result
Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Clinvar

955419

Epidemiology in the Arab World

View Map
Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
231670.5.1Palestine2PathogenicGlutaric Acidemia IAnikster et al. 1996 The patient had an older brother who pre...
231670.5.2Palestine1Anikster et al. 1996 Sister of 231670.5.1
231670.5.3Palestine1Anikster et al. 1996 Sister of 231670.5.1
231670.5.4Palestine1Anikster et al. 1996 Brother of 231670.5.1
231670.5.5Palestine1Anikster et al. 1996 Father of 231670.5.1
231670.5.6Palestine1Anikster et al. 1996 Mother of 231670.5.1
Download Table

Contributors

  • Sayeeda Hana: 18.08.2020

Edit History

  • Pratibha Nair: 09.11.2022
  • Rahila Mir: 17.02.2022
  • Sayeeda Hana: 19.08.2020
  • Sayeeda Hana: 18.08.2020
Back to search Result
© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.