rs551542832

This variant is located in the PINK1 gene.

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ClinVar annotation

Conflicting Classifications
4 submitters2 publications

not specified; Autosomal recessive early-onset Parkinson disease 6; PINK1-related disorder

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About PINK1

This gene encodes a serine/threonine protein kinase that localizes to mitochondria. It is thought to protect cells from stress-induced mitochondrial dysfunction. Mutations in this gene cause one form of autosomal recessive early-onset Parkinson disease. [provided by RefSeq, Jul 2008]

View all PINK1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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