rs768091663

This is a variant in the PINK1 gene that changes a alanine to an proline.

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ClinVar annotation

Pathogenic★★★☆
5 submitters8 publications

Autosomal recessive early-onset Parkinson disease 6 (PARK6); PINK1-Related Parkinsonism

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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]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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