Variant (rsID / SNP)
rs139590686
rs139590686 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to POLG. Location: chromosome 15, position 89,864,238. Clinical significance in the table: Pathogenic/Likely pathogenic.
Reference-table entries
POLGPathogenic
- Clinical significance (as recorded)
- Pathogenic/Likely pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 15:89864238
- Cytoband
- 15q26.1
- HGVS
- NM_002693.3(POLG):c.2740A>C (p.Thr914Pro)
- Allele change
- Missense_T914P
Associated conditions / phenotypes
POLG-Related Spectrum Disorders|Progressive sclerosing poliodystrophy|Progressive sclerosing poliodystrophy|Mitochondrial DNA depletion syndrome 4b|Toe walking
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.