rs956491558
This variant is located in the PINK1 gene.
▶ClinVar annotation
Uncertain Significance★★★☆
2 submitters1 publicationAutosomal recessive early-onset Parkinson disease 6; Inborn genetic diseases
View on ClinVar →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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