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Variant (rsID / SNP)

rs2307437

POLG

rs2307437 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to POLG. Location: chromosome 15, position 89,872,227. 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
15:89872227
Cytoband
15q26.1
HGVS
NM_002693.3(POLG):c.970C>T (p.Pro324Ser)
Allele change
Missense_P324S

Associated conditions / phenotypes

Progressive sclerosing poliodystrophy|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.