NM_001165963.4:c.428T>C

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  2. NM_001165963.4:c.428T>C

HGVS Expressions

  • NG_011906.1:g.22184T>C
  • NM_001165963.4:c.428T>C
  • NP_001340877.1:p.Val143Ala

Associated Genes

Sodium Voltage-Gated Channel, Alpha Subunit 1
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Genomic Location

chr2:166056456

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
607208.3Lebanon1PathogenicDravet SyndromeAlame et al. 2019 de novo mutation
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Contributors

  • Pratibha Nair: 13.10.2020

Edit History

  • Rahila Mir: 17.02.2022
  • Pratibha Nair: 13.10.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.