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Variant (rsID / SNP)

rs121918053

POLG

rs121918053 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to POLG. Location: chromosome 15, position 89,865,008. Clinical significance in the table: Uncertain significance.

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Reference-table entries

POLGUncertain significance
Clinical significance (as recorded)
Uncertain significance
Variant type
single nucleotide variant
Chromosome / position
15:89865008
Cytoband
15q26.1
HGVS
NM_002693.3(POLG):c.2557C>T (p.Arg853Trp)
Allele change
Missense_R853W

Associated conditions / phenotypes

Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1|Progressive sclerosing poliodystrophy

Public references

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