NM_002977.3:c.4282G>A

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  2. NM_002977.3:c.4282G>A

HGVS Expressions

  • NG_012798.1:g.154338G>A
  • NM_002977.3:c.4282G>A
  • NP_002968.1:p.Val1428Phe

Associated Genes

Sodium Voltage-Gated Channel, Alpha Subunit 9
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Genomic Location

chr2:166226650

Clinvar Clinical Significance

Benign, Likely Benign

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

149346064

Clinvar

287829

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
613863.1Lebanon1Likely PathogenicGeneralized Epilepsy with Febrile Seizures Plus, Type 7Jalkh et al. 2019
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Contributors

  • Pratibha Nair: 18.11.2020

Edit History

  • Pratibha Nair: 18.11.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.