Variant (rsID / SNP)

rs140079523

rs140079523 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to POLG. Location: chromosome 15, position 89,862,193. Clinical significance in the table: Conflicting interpretations of pathogenicity.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

POLGConflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 15:89862193
Cytoband: 15q26.1
HGVS: NM_002693.3(POLG):c.3242G>A (p.Arg1081Gln)
Allele change: Missense_R1081Q

Associated conditions / phenotypes

Progressive sclerosing poliodystrophy|11 conditions

Public references

dbSNP
ClinVar
Ensembl
gnomAD

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.