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
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Genomic Location

chr2:166226650

Clinical Significance

Benign,Likely Benign

Variant Type

Substitution

Clinvar

287829

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountClinical SignificanceCondition(s)ReferenceRemarks
613863.1Lebanon1Likely PathogenicGeneralized Epilepsy with Febrile Seizures Plus, Type 7Jalkh et al. 2019
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