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Variant (rsID / SNP)

rs55774500

PRKN

rs55774500 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PRKN. Location: chromosome 6, position 162,683,724. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

PRKNConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
6:162683724
Cytoband
6q26
HGVS
NM_004562.3(PRKN):c.245C>A (p.Ala82Glu)
Allele change
Missense_A82E

Associated conditions / phenotypes

Autosomal recessive juvenile Parkinson disease 2

Public references

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