NM_003124.5:c.260C>A

HGVS Expressions

  • NG_008234.1:g.5310C>A
  • NM_003124.5:c.260C>A
  • NP_003115.1:p.Pro87His
  • NC_000002.12:g.72887692C>A

Associated Genes

Sepiapterin Reductase
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CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
612716.1Lebanon2Likely PathogenicDystonia, Dopa-Responsive, Due to Sepiapterin Reductase DeficiencyJalkh et al. 2019
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