Variant (rsID / SNP)

rs267606959

rs267606959 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to POLG. Location: chromosome 15, position 89,862,217. Clinical significance in the table: Pathogenic.

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Reference-table entries

POLGPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 15:89862217
Cytoband: 15q26.1
HGVS: NM_002693.3(POLG):c.3218C>T (p.Pro1073Leu)
Allele change: Missense_P1073L

Associated conditions / phenotypes

Mitochondrial DNA depletion syndrome 4b|Progressive sclerosing poliodystrophy

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.