Gene entry
APRT
adenine phosphoribosyltransferase
- Chromosome
- 16
- Cytoband
- 16q24.3
- Variants (rsID)
- 7
APRT is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 16 (region 16q24.3). Its official name is “adenine phosphoribosyltransferase”. The reference table lists 7 variants (rsID) for this gene.
Clinically classified variants
3 reference-table entries with clinical significance.
- rs1141390Benignsingle nucleotide variantAdenine phosphoribosyltransferase deficiency|Morquio syndrome|Mucopolysaccharidosis, MPS-IV-A
- rs104894508Pathogenicsingle nucleotide variantAdenine phosphoribosyltransferase deficiency
- rs281860266Pathogenicsingle nucleotide variantAdenine phosphoribosyltransferase deficiency
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.