Variant (rsID / SNP)
rs201749977
rs201749977 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to POLG. Location: chromosome 15, position 89,864,489. 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
- 15:89864489
- Cytoband
- 15q26.1
- HGVS
- NM_002693.3(POLG):c.2601T>C (p.Pro867=)
- Allele change
- Synonymous_P867P
Associated conditions / phenotypes
POLG-Related Spectrum Disorders|Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis|Progressive sclerosing poliodystrophy|Mitochondrial DNA depletion syndrome 4b|Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1|Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1|Progressive sclerosing poliodystrophy
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.