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Variant (rsID / SNP)

rs1427463

POLG2

rs1427463 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to POLG2. Location: chromosome 17, position 62,492,582. Clinical significance in the table: Benign.

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Reference-table entries

POLG2Benign
Clinical significance (as recorded)
Benign
Variant type
single nucleotide variant
Chromosome / position
17:62492582
Cytoband
17q23.3
HGVS
NM_007215.4(POLG2):c.505G>A (p.Ala169Thr)
Allele change
Missense_A169T

Associated conditions / phenotypes

Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4|Mitochondrial DNA depletion syndrome 16 (hepatic type)|Mitochondrial dna depletion syndrome 16B (neuroophthalmic type)

Public references

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