NM_001165963.4:c.2836C>T

  1. Home
  2. NM_001165963.4:c.2836C>T

HGVS Expressions

  • NG_011906.1:g.40754C>T
  • NM_001165963.4:c.2836C>T
  • NP_001340877.1:p.Arg946Cys

Associated Genes

Sodium Voltage-Gated Channel, Alpha Subunit 1
Back to search Result
Genomic Location

chr2:166037886

Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

121918775

Clinvar

68604

Epidemiology in the Arab World

View Map
Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
607208.5Lebanon1PathogenicDravet SyndromeAlame et al. 2019 de novo mutation
Download Table

Contributors

  • Pratibha Nair: 13.10.2020

Edit History

  • Pratibha Nair: 13.10.2020
Back to search Result
© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.