Variant (rsID / SNP)
rs201477273
rs201477273 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to POLG. Location: chromosome 15, position 89,864,088. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
POLGConflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 15:89864088
- Cytoband
- 15q26.1
- HGVS
- NM_002693.3(POLG):c.2890C>T (p.Arg964Cys)
- Allele change
- Missense_R964C
Associated conditions / phenotypes
Progressive sclerosing poliodystrophy|Mitochondrial DNA depletion syndrome 4b|Progressive sclerosing poliodystrophy|Seizure|Spinocerebellar atrophy|Mitochondrial DNA depletion syndrome 4b|Hereditary spastic paraplegia|POLG-Related Spectrum Disorders
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.