NM_001165963.3:c.4907G>A

HGVS Expressions

  • NG_011906.1:g.86272G>A
  • NM_001165963.3:c.4907G>A
  • NP_001340877.1:p.Arg1636Gln
Back to search Result
Genomic Location

chr2:165992368

Clinvar Clinical Significance

Likely Pathogenic, Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Clinvar

68557

Epidemiology in the Arab World

View Map
Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
607208.1Lebanon1PathogenicDravet SyndromeNair et al. 2018
607208.8Lebanon1PathogenicDravet SyndromeAlame et al. 2019 de novo mutation
© CAGS 2024. All rights reserved.