NM_001165963.4:c.5536_5539del

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HGVS Expressions

  • NG_011906.1:g.86897AAAC[1]
  • NM_001165963.4:c.5536_5539del
  • NP_001159435.1:p.Lys1846SerfsTer11
  • NC_000002.12:g.165991737TTTG[1]

Associated Genes

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

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Microsatellite

dbSNP

794726726

Clinvar

189881

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
607208.10United Arab Emirates1NAPathogenicDravet SyndromeMahfouz et al. 2020
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Contributors

  • Asha Deepthi: 14.07.2022

Edit History

  • Sami Bizzari: 06.02.2023
  • Asha Deepthi: 14.07.2022
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.