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Variant (rsID / SNP)

rs202037973

POLG

rs202037973 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to POLG. Location: chromosome 15, position 89,866,654. 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
15:89866654
Cytoband
15q26.1
HGVS
NM_002693.3(POLG):c.2246T>C (p.Phe749Ser)
Allele change
Missense_F749S

Associated conditions / phenotypes

Progressive sclerosing poliodystrophy|Intellectual disability|Seizure|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.