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Variant (rsID / SNP)

rs199759055

POLG

rs199759055 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to POLG. Location: chromosome 15, position 89,871,930. 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
15:89871930
Cytoband
15q26.1
HGVS
NM_002693.3(POLG):c.1156C>T (p.Arg386Cys)
Allele change
Missense_R386C

Associated conditions / phenotypes

Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis|Progressive sclerosing poliodystrophy|Mitochondrial DNA depletion syndrome 4b|Progressive sclerosing poliodystrophy|POLG-Related Spectrum Disorders

Public references

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