NM_003124.5:c.207C>G

HGVS Expressions

  • NG_008234.1:g.5257C>G
  • NM_003124.5:c.207C>G
  • NP_003115.1:p.Asp69Glu
  • NC_000002.12:g.72887639C>G

Associated Genes

Sepiapterin Reductase
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Clinvar Clinical Significance

Uncertain Significance

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Clinvar

566802

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
612716.2.1Egypt1PathogenicDystonia, Dopa-Responsive, Due to Sepiapterin Reductase DeficiencyShalash et al. 2017 Authors noted that the "SPR mutation can...
612716.2.2Egypt1PathogenicDystonia, Dopa-Responsive, Due to Sepiapterin Reductase DeficiencyShalash et al. 2017 Sister of 612716.2.1 Authors noted tha...
612716.2.3Egypt1PathogenicDystonia, Dopa-Responsive, Due to Sepiapterin Reductase DeficiencyShalash et al. 2017 Brother of 612716.2.1 Authors noted th...
612716.2.4Egypt1PathogenicDystonia, Dopa-Responsive, Due to Sepiapterin Reductase DeficiencyShalash et al. 2017 Daughter of 612716.2.1 Authors noted t...
612716.2.5Egypt1PathogenicDystonia, Dopa-Responsive, Due to Sepiapterin Reductase DeficiencyShalash et al. 2017 Son of 612716.2.1 Authors noted that t...
612716.2.6Egypt1Shalash et al. 2017 Mother of 612716.2.1
612716.2.8Egypt1Shalash et al. 2017 Brother of 612716.2.1
612716.2.9Egypt1Shalash et al. 2017 Son of 612716.2.1
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