Gene entry
ITPA
inosine triphosphatase
- Chromosome
- 20
- Cytoband
- 20p13
- Variants (rsID)
- 8
ITPA is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 20 (region 20p13). Its official name is “inosine triphosphatase”. The reference table lists 8 variants (rsID) for this gene.
Clinically classified variants
3 reference-table entries with clinical significance.
- rs7270101Drug responsesingle nucleotide variantInosine triphosphatase deficiency|Developmental and epileptic encephalopathy, 35|peginterferon alfa-2b and ribavirin response - Toxicity
- rs138760860Uncertain significancesingle nucleotide variantInosine triphosphatase deficiency
- rs202194282Uncertain significancesingle nucleotide variantInosine triphosphatase deficiency|Developmental and epileptic encephalopathy, 35
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.