Variant (rsID / SNP)

rs121918056

rs121918056 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to POLG. Location: chromosome 15, position 89,873,488. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

POLGPathogenic

Clinical significance (as recorded): Pathogenic/Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 15:89873488
Cytoband: 15q26.1
HGVS: NM_002693.3(POLG):c.679C>T (p.Arg227Trp)
Allele change: Missense_R227W

Associated conditions / phenotypes

Mitochondrial DNA depletion syndrome 4b|Progressive sclerosing poliodystrophy|Abnormality of corpus callosum

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.