NM_001165963.4:c.5195C>T

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HGVS Expressions

  • NG_011906.1:g.86560C>T
  • NM_001165963.4:c.5195C>T
  • NP_001159435.1:p.Pro1732Leu
  • NC_000002.12:g.165992080G>A

Associated Genes

Sodium Voltage-Gated Channel, Alpha Subunit 1
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

Clinvar

1455797

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
607208.9Lebanon1Likely PathogenicDravet SyndromeAlame et al. 2019 de novo mutation
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Contributors

  • Pratibha Nair: 13.10.2020

Edit History

  • Pratibha Nair: 10.11.2022
  • Rahila Mir: 14.02.2022
  • Pratibha Nair: 13.10.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.