NM_001165963.4:c.4497del

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HGVS Expressions

  • NG_011906.1:g.82543del
  • NM_001165963.4:c.4497del
  • NP_001340877.1:p.Phe1499LeufsTer2
  • NC_000002.12:g.165996097del

Associated Genes

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

Likely Pathogenic

Variant Type

Deletion

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
607208.14Saudi Arabia1Likely PathogenicDravet SyndromeMonies et al. 2019
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Contributors

  • Pratibha Nair: 14.12.2023

Edit History

  • Pratibha Nair: 14.12.2023
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.