Variant (rsID / SNP)
rs113994098
rs113994098 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to POLG. Location: chromosome 15, position 89,865,023. Clinical significance in the table: Pathogenic.
Reference-table entries
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 15:89865023
- Cytoband
- 15q26.1
- HGVS
- NM_002693.3(POLG):c.2542G>A (p.Gly848Ser)
- Allele change
- Missense_G848S
Associated conditions / phenotypes
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1|Progressive external ophthalmoplegia with mitochondrial DNA deletions, digenic|Progressive sclerosing poliodystrophy|Mitochondrial DNA depletion syndrome 4b|POLG-Related Spectrum Disorders|6 conditions|POLG- Related Disorder|Seizure|Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1|Mitochondrial DNA depletion syndrome 4b|Progressive sclerosing poliodystrophy|Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1|Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1|Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis|Hereditary spastic paraplegia|Mitochondrial DNA depletion syndrome 4b|Progressive sclerosing poliodystrophy|Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1|Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1|Mitochondrial disease
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.