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Variant (rsID / SNP)

rs148101254

POLG2

rs148101254 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to POLG2. Location: chromosome 17, position 62,489,027. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

POLG2Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
17:62489027
Cytoband
17q23.3
HGVS
NM_007215.4(POLG2):c.674G>A (p.Arg225Gln)
Allele change
Missense_R225Q

Associated conditions / phenotypes

Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4|Hereditary spastic paraplegia

Public references

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