Variant (rsID / SNP)
rs121918054
rs121918054 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to POLG. Location: chromosome 15, position 89,866,691. Clinical significance in the table: Pathogenic/Likely pathogenic.
Reference-table entries
- Clinical significance (as recorded)
- Pathogenic/Likely pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 15:89866691
- Cytoband
- 15q26.1
- HGVS
- NM_002693.3(POLG):c.2209G>C (p.Gly737Arg)
- Allele change
- Missense_G737R
Associated conditions / phenotypes
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1|Progressive sclerosing poliodystrophy|POLG-Related Spectrum Disorders|Mitochondrial disease|Seizure|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|Mitochondrial DNA depletion syndrome 4b|Progressive sclerosing poliodystrophy|Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis|Hereditary spastic paraplegia
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.