Gene entry
POLG2
DNA polymerase gamma 2, accessory subunit
- Chromosome
- 17
- Cytoband
- 17q23.3
- Variants (rsID)
- 9
POLG2 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 17 (region 17q23.3). Its official name is “DNA polymerase gamma 2, accessory subunit”. The reference table lists 9 variants (rsID) for this gene.
Clinically classified variants
6 reference-table entries with clinical significance.
- rs1427463Benignsingle nucleotide variantProgressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4|Mitochondrial DNA depletion syndrome 16 (hepatic type)|Mitochondrial dna depletion syndrome 16B (neuroophthalmic type)
- rs146504115Conflicting interpretationssingle nucleotide variant
- rs148101254Conflicting interpretationssingle nucleotide variantProgressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4|Hereditary spastic paraplegia
- rs201936720Conflicting interpretationssingle nucleotide variantProgressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4|Hereditary spastic paraplegia
- rs886037843Likely pathogenicsingle nucleotide variantAcute liver failure|Mitochondrial DNA depletion syndrome 16A|Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4
- rs148941150Uncertain significancesingle nucleotide variant
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.