Gene entry
TYMP
thymidine phosphorylase
- Chromosome
- 22
- Cytoband
- 22q13.33
- Variants (rsID)
- 13
TYMP is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 22 (region 22q13.33). Its official name is “thymidine phosphorylase”. The reference table lists 13 variants (rsID) for this gene.
Clinically classified variants
8 reference-table entries with clinical significance.
- rs74624637Benignsingle nucleotide variantMitochondrial DNA depletion syndrome 1
- rs112793292Conflicting interpretationssingle nucleotide variantCytochrome-c oxidase deficiency disease|Fatal Infantile Cardioencephalomyopathy|Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1
- rs139223629Conflicting interpretationssingle nucleotide variantMitochondrial DNA depletion syndrome 1|Mitochondrial neurogastrointestinal encephalomyopathy
- rs188802138Conflicting interpretationssingle nucleotide variantMitochondrial DNA depletion syndrome 1|Mitochondrial neurogastrointestinal encephalomyopathy
- rs369574115Conflicting interpretationssingle nucleotide variantMitochondrial DNA depletion syndrome 1
- rs372620403Conflicting interpretationssingle nucleotide variantFatal Infantile Cardioencephalomyopathy|Cytochrome-c oxidase deficiency disease|Mitochondrial DNA depletion syndrome 1
- rs121913039Pathogenicsingle nucleotide variantMitochondrial DNA depletion syndrome 1
- rs121913041Pathogenicsingle nucleotide variantMitochondrial DNA depletion syndrome 1
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.