Gene entry
PRPS1
phosphoribosyl pyrophosphate synthetase 1
- Chromosome
- X
- Cytoband
- Xq22.3
- Variants (rsID)
- 16
PRPS1 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome X (region Xq22.3). Its official name is “phosphoribosyl pyrophosphate synthetase 1”. The reference table lists 16 variants (rsID) for this gene.
Clinically classified variants
13 reference-table entries with clinical significance.
- rs80338730Benignsingle nucleotide variantArts syndrome|Phosphoribosylpyrophosphate synthetase superactivity|Hearing loss, X-linked 1|Charcot-Marie-Tooth Neuropathy X|History of neurodevelopmental disorder
- rs137852540Likely pathogenicsingle nucleotide variantPhosphoribosylpyrophosphate synthetase superactivity|Inborn genetic diseases|Arts syndrome
- rs80338732Likely pathogenicsingle nucleotide variantCharcot-Marie-Tooth disease X-linked recessive 5|Charcot-Marie-Tooth Neuropathy X
- rs137852541Pathogenicsingle nucleotide variantPhosphoribosylpyrophosphate synthetase superactivity
- rs137852542Pathogenicsingle nucleotide variantPhosphoribosylpyrophosphate synthetase superactivity
- rs137852543Pathogenicsingle nucleotide variantPhosphoribosylpyrophosphate synthetase superactivity
- rs137852544Pathogenicsingle nucleotide variantPhosphoribosylpyrophosphate synthetase superactivity
- rs180177151Pathogenicsingle nucleotide variantHearing loss, X-linked 1
- rs180177153Pathogenicsingle nucleotide variantHearing loss, X-linked 1
- rs398122855Pathogenicsingle nucleotide variantArts syndrome
- rs80338675Pathogenicsingle nucleotide variantArts syndrome
- rs180177152Uncertain significancesingle nucleotide variantHearing loss, X-linked 1|Charcot-Marie-Tooth Neuropathy X
- rs80338676Uncertain significancesingle nucleotide variantArts 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.