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Gene entry

HPRT1

hypoxanthine phosphoribosyltransferase 1

Chromosome
X
Cytoband
Xq26.2-q26.3
Variants (rsID)
32

HPRT1 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome X (region Xq26.2-q26.3). Its official name is “hypoxanthine phosphoribosyltransferase 1”. The reference table lists 32 variants (rsID) for this gene.

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Clinically classified variants

26 reference-table entries with clinical significance.

  • rs137852488Likely pathogenicsingle nucleotide variantHPRT YALE|Lesch-Nyhan syndrome
  • rs137852490Likely pathogenicsingle nucleotide variantLesch-Nyhan syndrome|Partial hypoxanthine-guanine phosphoribosyltransferase deficiency|Lesch-Nyhan syndrome
  • rs137852477Pathogenicsingle nucleotide variantHPRT ANN ARBOR|Partial hypoxanthine-guanine phosphoribosyltransferase deficiency
  • rs137852479Pathogenicsingle nucleotide variantPartial hypoxanthine-guanine phosphoribosyltransferase deficiency|HPRT ASHVILLE
  • rs137852480Pathogenicsingle nucleotide variantLesch-Nyhan syndrome|HPRT DETROIT
  • rs137852482Pathogenicsingle nucleotide variantPartial hypoxanthine-guanine phosphoribosyltransferase deficiency|HPRT LONDON
  • rs137852483Pathogenicsingle nucleotide variantHPRT MIDLAND|Lesch-Nyhan syndrome
  • rs137852484Pathogenicsingle nucleotide variantPartial hypoxanthine-guanine phosphoribosyltransferase deficiency|HPRT MILWAUKEE
  • rs137852486Pathogenicsingle nucleotide variantLesch-Nyhan syndrome|HPRT NEW BRITON
  • rs137852487Pathogenicsingle nucleotide variantLesch-Nyhan syndrome|HPRT NEW HAVEN|Lesch-Nyhan syndrome|Partial hypoxanthine-guanine phosphoribosyltransferase deficiency
  • rs137852489Pathogenicsingle nucleotide variantLesch-Nyhan syndrome|Lesch-Nyhan syndrome|Partial hypoxanthine-guanine phosphoribosyltransferase deficiency
  • rs137852491Pathogenicsingle nucleotide variantLesch-Nyhan syndrome
  • rs137852492Pathogenicsingle nucleotide variantLesch-Nyhan syndrome
  • rs137852493Pathogenicsingle nucleotide variantLesch-Nyhan syndrome
  • rs137852495Pathogenicsingle nucleotide variantLesch-nyhan syndrome, neurologic variant|HPRT MONTREAL|HPRT1-Related Disorder
  • rs137852496Pathogenicsingle nucleotide variantLesch-Nyhan syndrome
  • rs137852497Pathogenicsingle nucleotide variantLesch-Nyhan syndrome
  • rs137852498Pathogenicsingle nucleotide variantPartial hypoxanthine-guanine phosphoribosyltransferase deficiency
  • rs137852499Pathogenicsingle nucleotide variantPartial hypoxanthine-guanine phosphoribosyltransferase deficiency|HPRT URANGAN
  • rs137852500Pathogenicsingle nucleotide variantPartial hypoxanthine-guanine phosphoribosyltransferase deficiency|HPRT TOOWONG
  • rs137852502Pathogenicsingle nucleotide variantHPRT EDINBURGH|Partial hypoxanthine-guanine phosphoribosyltransferase deficiency
  • rs137852506Pathogenicsingle nucleotide variantPartial hypoxanthine-guanine phosphoribosyltransferase deficiency
  • rs267606863Pathogenicsingle nucleotide variantLesch-Nyhan syndrome
  • rs369065223Pathogenicsingle nucleotide variantPartial hypoxanthine-guanine phosphoribosyltransferase deficiency|Lesch-Nyhan syndrome
  • rs387906725Pathogenicsingle nucleotide variantLesch-nyhan syndrome, neurologic variant|Lesch-Nyhan syndrome|Partial hypoxanthine-guanine phosphoribosyltransferase deficiency|Partial hypoxanthine-guanine phosphoribosyltransferase deficiency
  • rs137852503Uncertain significancesingle nucleotide variantLesch-Nyhan syndrome|HPRT TOKYO|Partial hypoxanthine-guanine phosphoribosyltransferase deficiency|Lesch-Nyhan syndrome

Other listed variants

Public references

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