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Variant (rsID / SNP)

rs2307448

POLG

rs2307448 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to POLG. Location: chromosome 15, position 89,865,091. 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
15:89865091
Cytoband
15q26.1
HGVS
NM_002693.3(POLG):c.2481-7C>T
Allele change
Silent

Associated conditions / phenotypes

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

Public references

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