rs191486604
This is a variant in the PRKN gene that changes a glycine to an aspartate.
▶ClinVar annotation
Autosomal recessive juvenile Parkinson disease 2; Lung cancer; Ovarian cancer; PRKN-related disorder; Young-onset Parkinson disease
View on ClinVar →About PRKN
The precise function of this gene is unknown; however, the encoded protein is a component of a multiprotein E3 ubiquitin ligase complex that mediates the targeting of substrate proteins for proteasomal degradation. Mutations in this gene are known to cause Parkinson disease and autosomal recessive juvenile Parkinson disease. Alternative splicing of this gene produces multiple transcript variants encoding distinct isoforms. Additional splice variants of this gene have been described but currently lack transcript support. [provided by RefSeq, Jul 2008]
View all PRKN variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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