Variant (rsID / SNP)
rs142347031
rs142347031 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to POLG. Location: chromosome 15, position 89,864,081. 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
- 15:89864081
- Cytoband
- 15q26.1
- HGVS
- NM_002693.3(POLG):c.2897T>G (p.Leu966Arg)
- Allele change
- Missense_L966R
Associated conditions / phenotypes
Progressive sclerosing poliodystrophy
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.