NM_000520.5:c.1351C>G

  1. Home
  2. NM_000520.5:c.1351C>G

HGVS Expressions

  • NG_009017.2:g.34875C>G
  • NM_000520.5:c.1351C>G
  • NP_000511.2:p.Leu451Val
  • NC_000015.10:g.72346305G>C

Associated Genes

Hexosaminidase A
Back to search Result
Clinvar Clinical Significance

Uncertain Significance

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

28940871

Clinvar

3942

Epidemiology in the Arab World

View Map
Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
272800.G.1Iraq21PathogenicKarpati et al. 2004 21 Iraqi Jews
Download Table

Contributors

  • Pratibha Nair: 16.08.2018

Edit History

  • Pratibha Nair: 12.10.2022
  • Pratibha Nair: 25.12.2018
Back to search Result
© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.