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Gene entry

SPR

sepiapterin reductase

Chromosome
2
Cytoband
2p13.2
Variants (rsID)
3

SPR is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 2 (region 2p13.2). Its official name is “sepiapterin reductase”. The reference table lists 3 variants (rsID) for this gene.

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Clinically classified variants

3 reference-table entries with clinical significance.

  • rs146099322Benignsingle nucleotide variantDystonic disorder|Dopa-responsive dystonia due to sepiapterin reductase deficiency
  • rs146349901Conflicting interpretationssingle nucleotide variantDopa-responsive dystonia due to sepiapterin reductase deficiency|Dystonic disorder
  • rs104893665Pathogenicsingle nucleotide variantDopa-responsive dystonia due to sepiapterin reductase deficiency|Dystonic disorder

Public references

Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.