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Variant (rsID / SNP)

rs121918049

POLG

rs121918049 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to POLG. Location: chromosome 15, position 89,862,284. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

POLGConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
15:89862284
Cytoband
15q26.1
HGVS
NM_002693.3(POLG):c.3151G>C (p.Gly1051Arg)
Allele change
Missense_G1051R

Associated conditions / phenotypes

Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis|Progressive sclerosing poliodystrophy|POLG-Related Spectrum Disorders|Intellectual disability|See cases

Public references

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