NM_001165963.3:c.2593C>T

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HGVS Expressions

  • NG_011906.1:g.40511C>T
  • NM_001165963.3:c.2593C>T
  • NP_001340877.1:p.Arg865Ter

Associated Genes

Sodium Voltage-Gated Channel, Alpha Subunit 1
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Genomic Location

chr2:166038129

Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

794726697

Clinvar

189844

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
607208.2Lebanon1PathogenicDravet SyndromeNair et al. 2018
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Contributors

  • Pratibha Nair: 28.04.2020

Edit History

  • Pratibha Nair: 28.04.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.