NM_000824.5:c.596T>G

  1. Home
  2. NM_000824.5:c.596T>G

HGVS Expressions

  • NG_015823.1:g.65748T>G
  • NM_000824.5:c.596T>G
  • NP_000815.1:p.Met199Arg
  • NC_000004.12:g.157136872T>G

Associated Genes

Glycine Receptor, Beta Subunit
Back to search Result
Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

398122856

Clinvar

31539

Epidemiology in the Arab World

View Map
Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
614619.1.1Saudi Arabia2NAPathogenicHyperekplexia 2Al-Owain et al. 2012 'Patient 1' from 'Family 1' in the publi...
614619.1.2Saudi Arabia2NAPathogenicHyperekplexia 2Al-Owain et al. 2012 'Patient 2' from 'Family 1' in the publi...
614619.1.3Saudi Arabia2NAPathogenicHyperekplexia 2Al-Owain et al. 2012 'Patient 3' from 'Family 1' in the publi...
614619.1.4Saudi Arabia2NAPathogenicHyperekplexia 2Al-Owain et al. 2012 'Patient 4' from 'Family 1' in the publi...
614619.1.5Saudi Arabia2NAPathogenicHyperekplexia 2Al-Owain et al. 2012 'Patient 5' from 'Family 2' in the publi...
614619.1.6Saudi Arabia2NAPathogenicHyperekplexia 2Al-Owain et al. 2012 'Patient 6' from 'Family 2' in the publi...
614619.1.7Saudi Arabia2NAPathogenicHyperekplexia 2Al-Owain et al. 2012 'Patient 7' from 'Family 2' in the publi...
614619.1.8Saudi Arabia2NAPathogenicHyperekplexia 2Al-Owain et al. 2012 'Patient 8' from 'Family 2' in the publi...
614619.1.9Saudi Arabia2NAPathogenicHyperekplexia 2Al-Owain et al. 2012 'Patient 9' from 'Family 3' in the publi...
Download Table

Contributors

  • Asha Deepthi: 23.09.2022

Edit History

  • Asha Deepthi: 23.09.2022
Back to search Result
© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.