Variant (rsID / SNP)

rs121918052

rs121918052 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to POLG. Location: chromosome 15, position 89,870,237. Clinical significance in the table: Uncertain significance.

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Reference-table entries

POLGUncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 15:89870237
Cytoband: 15q26.1
HGVS: NM_002693.3(POLG):c.1491G>C (p.Gln497His)
Allele change: Missense_Q497H

Associated conditions / phenotypes

Spinocerebellar ataxia with epilepsy|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.