NM_001040142.2:c.304C>T

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HGVS Expressions

  • NG_008143.1:g.62652C>T
  • NM_001040142.2:c.304C>T
  • NP_001035232.1:p.Arg102Ter
  • NC_000002.12:g.165297053C>T

Associated Genes

Sodium Voltage-Gated Channel, Alpha Subunit 2
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

387906683

Clinvar

29885

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
618924.1Saudi Arabia1PathogenicEpisodic Ataxia, Type 9Monies et al. 2017
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Contributors

  • Asha Deepthi: 06.12.2024

Edit History

  • Asha Deepthi: 06.12.2024
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.