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Variant (rsID / SNP)

rs41546712

POLG

rs41546712 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to POLG. Location: chromosome 15, position 89,864,125. 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
15:89864125
Cytoband
15q26.1
HGVS
NM_002693.3(POLG):c.2853C>T (p.Tyr951=)
Allele change
Synonymous_Y951Y

Associated conditions / phenotypes

Progressive sclerosing poliodystrophy|Seizure|POLG-Related Spectrum Disorders|Hereditary spastic paraplegia

Public references

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