NM_001165963.4:c.602+2dupT

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  2. NM_001165963.4:c.602+2dupT

HGVS Expressions

  • NG_011906.1:g.24004dup
  • NM_001165963.4:c.602+2dupT

Associated Genes

Sodium Voltage-Gated Channel, Alpha Subunit 1
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Genomic Location

chr2:166054636

Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Duplication

dbSNP

796053054

Clinvar

206892

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
607208.4Lebanon1PathogenicDravet SyndromeAlame et al. 2019 de novo mutation
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Contributors

  • Pratibha Nair: 13.10.2020

Edit History

  • Pratibha Nair: 13.10.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.