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
Back to search Result
Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

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...
© CAGS 2022. All rights reserved.