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Variant (rsID / SNP)

rs373550219

POLG

rs373550219 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to POLG. Location: chromosome 15, position 89,867,380. 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
15:89867380
Cytoband
15q26.1
HGVS
NM_002693.3(POLG):c.2028G>A (p.Ala676=)
Allele change
Synonymous_A676A

Associated conditions / phenotypes

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

Public references

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