NM_001080414.4:c.5922T>G

HGVS Expressions

  • NG_033118.2:g.150055T>G
  • NM_001080414.4:c.5922T>G
  • NP_001073883.2:p.Ser1974Arg
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Genomic Location

chr14:91272790

Clinical Significance

Likely Pathogenic

Variant Type

Substitution

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountClinical SignificanceCondition(s)ReferenceRemarks
616053.1Lebanon1Likely PathogenicSpinocerebellar Ataxia 40Jalkh et al. 2019
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