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Variant (rsID / SNP)

rs41549716

POLG

rs41549716 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to POLG. Location: chromosome 15, position 89,865,073. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

POLGBenign
Clinical significance (as recorded)
Benign/Likely benign
Variant type
single nucleotide variant
Chromosome / position
15:89865073
Cytoband
15q26.1
HGVS
NM_002693.3(POLG):c.2492A>G (p.Tyr831Cys)
Allele change
Missense_Y831C

Associated conditions / phenotypes

Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1|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.