Variant (rsID / SNP)
rs113994097
rs113994097 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to POLG. Location: chromosome 15, position 89,866,657. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 15:89866657
- Cytoband
- 15q26.1
- HGVS
- NM_002693.3(POLG):c.2243G>C (p.Trp748Ser)
- Allele change
- Missense_W748S
Associated conditions / phenotypes
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis|Spinocerebellar ataxia with epilepsy|Progressive sclerosing poliodystrophy|POLG-Related Spectrum Disorders|Mitochondrial disease|Seizure|Mitochondrial DNA depletion syndrome 4b|Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.