PINK1 Chromosome 1
PTEN induced kinase 1
Upload your DNA to see your personal genotypes for variants in PINK1.
What This Gene Does
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]
Gene Info
Gene Group
MicroRNA protein coding host genes
Locus Type
gene with protein product
Location
1p36.12
Ensembl
ENSG00000158828
Associated Conditions (15)
Autosomal recessive early-onset Parkinson disease 6
Uveal melanoma
Familial cancer of breast
PINK1-related disorder
Inborn genetic diseases
Hepatocellular carcinoma
Parkinson disease
autosomal recessive early-onset
digenic
PINK1/DJ1
Thymoma
Parkinson disease 6
Leprosy
susceptibility to
1
Key Variants
RS113092523
Conflicting classifications of pathogenicity
Autosomal recessive early-onset Parkinson disease 6, Autosomal recessive early-onset Parkinson disease 6
Health Risk
RS143204084
Conflicting classifications of pathogenicity
Autosomal recessive early-onset Parkinson disease 6, Autosomal recessive early-onset Parkinson disease 6
Health Risk
RS148144773
Conflicting classifications of pathogenicity
Autosomal recessive early-onset Parkinson disease 6, Autosomal recessive early-onset Parkinson disease 6
Health Risk
RS149994404
Conflicting classifications of pathogenicity
Autosomal recessive early-onset Parkinson disease 6, Autosomal recessive early-onset Parkinson disease 6
Health Risk
RS192131551
Conflicting classifications of pathogenicity
Autosomal recessive early-onset Parkinson disease 6, Uveal melanoma, Familial cancer of breast
Health Risk
RS34677717
Conflicting classifications of pathogenicity
Autosomal recessive early-onset Parkinson disease 6, PINK1-related disorder, Autosomal recessive early-onset Parkinson disease 6
Health Risk
RS35813094
Conflicting classifications of pathogenicity
Autosomal recessive early-onset Parkinson disease 6, Autosomal recessive early-onset Parkinson disease 6
Health Risk
RS370470902
Conflicting classifications of pathogenicity
Autosomal recessive early-onset Parkinson disease 6, Autosomal recessive early-onset Parkinson disease 6
Health Risk
RS371385940
Conflicting classifications of pathogenicity
Inborn genetic diseases, Autosomal recessive early-onset Parkinson disease 6, Inborn genetic diseases
Health Risk
RS371943401
Conflicting classifications of pathogenicity
Autosomal recessive early-onset Parkinson disease 6, Autosomal recessive early-onset Parkinson disease 6
Health Risk
RS45478900
Conflicting classifications of pathogenicity
Autosomal recessive early-onset Parkinson disease 6, PINK1-related disorder, Autosomal recessive early-onset Parkinson disease 6
Health Risk
RS45515602
Conflicting classifications of pathogenicity
Autosomal recessive early-onset Parkinson disease 6, Autosomal recessive early-onset Parkinson disease 6
Health Risk
All Variants (68)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS113092523 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive early-onset Parkinson disease 6, Autosomal recessive early-onset Parkinson disease 6 |
| RS143204084 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive early-onset Parkinson disease 6, Autosomal recessive early-onset Parkinson disease 6 |
| RS148144773 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive early-onset Parkinson disease 6, Autosomal recessive early-onset Parkinson disease 6 |
| RS149994404 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive early-onset Parkinson disease 6, Autosomal recessive early-onset Parkinson disease 6 |
| RS192131551 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive early-onset Parkinson disease 6, Uveal melanoma, Familial cancer of breast |
| RS34677717 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive early-onset Parkinson disease 6, PINK1-related disorder, Autosomal recessive early-onset Parkinson disease 6 |
| RS35813094 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive early-onset Parkinson disease 6, Autosomal recessive early-onset Parkinson disease 6 |
| RS370470902 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive early-onset Parkinson disease 6, Autosomal recessive early-onset Parkinson disease 6 |
| RS371385940 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Autosomal recessive early-onset Parkinson disease 6, Inborn genetic diseases |
| RS371943401 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive early-onset Parkinson disease 6, Autosomal recessive early-onset Parkinson disease 6 |
| RS45478900 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive early-onset Parkinson disease 6, PINK1-related disorder, Autosomal recessive early-onset Parkinson disease 6 |
| RS45515602 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive early-onset Parkinson disease 6, Autosomal recessive early-onset Parkinson disease 6 |
| RS45604240 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive early-onset Parkinson disease 6, Autosomal recessive early-onset Parkinson disease 6 |
| RS537679886 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive early-onset Parkinson disease 6, Autosomal recessive early-onset Parkinson disease 6 |
| RS542258150 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive early-onset Parkinson disease 6, Autosomal recessive early-onset Parkinson disease 6 |
| RS548506734 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive early-onset Parkinson disease 6, Hepatocellular carcinoma, Autosomal recessive early-onset Parkinson disease 6 |
| RS551542832 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive early-onset Parkinson disease 6, PINK1-related disorder, Autosomal recessive early-onset Parkinson disease 6 |
| RS559921009 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive early-onset Parkinson disease 6, Autosomal recessive early-onset Parkinson disease 6 |
| RS56200357 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive early-onset Parkinson disease 6, Autosomal recessive early-onset Parkinson disease 6 |
| RS569753606 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive early-onset Parkinson disease 6, Autosomal recessive early-onset Parkinson disease 6 |
| RS749670160 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive early-onset Parkinson disease 6, Autosomal recessive early-onset Parkinson disease 6 |
| RS759468742 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive early-onset Parkinson disease 6, Autosomal recessive early-onset Parkinson disease 6 |
| RS762129771 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive early-onset Parkinson disease 6, Autosomal recessive early-onset Parkinson disease 6 |
| RS763416852 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive early-onset Parkinson disease 6, Autosomal recessive early-onset Parkinson disease 6 |
| RS763983499 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive early-onset Parkinson disease 6, Autosomal recessive early-onset Parkinson disease 6 |
| RS76753586 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive early-onset Parkinson disease 6, Autosomal recessive early-onset Parkinson disease 6 |
| RS770933972 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive early-onset Parkinson disease 6, Autosomal recessive early-onset Parkinson disease 6 |
| RS773637957 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive early-onset Parkinson disease 6, Autosomal recessive early-onset Parkinson disease 6 |
| RS777232150 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive early-onset Parkinson disease 6, Autosomal recessive early-onset Parkinson disease 6 |
| RS897203855 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive early-onset Parkinson disease 6, Inborn genetic diseases, Autosomal recessive early-onset Parkinson disease 6 |
| RS2545253039 | Health Risk | Likely pathogenic | Autosomal recessive early-onset Parkinson disease 6, Autosomal recessive early-onset Parkinson disease 6 |
| RS2545259625 | Health Risk | Likely pathogenic | PINK1-related disorder, Autosomal recessive early-onset Parkinson disease 6, PINK1-related disorder |
| RS2545267790 | Health Risk | Likely pathogenic | Autosomal recessive early-onset Parkinson disease 6, Autosomal recessive early-onset Parkinson disease 6 |
| RS748860758 | Health Risk | Likely pathogenic | Autosomal recessive early-onset Parkinson disease 6, Autosomal recessive early-onset Parkinson disease 6 |
| RS764252130 | Health Risk | Likely pathogenic | Autosomal recessive early-onset Parkinson disease 6, Autosomal recessive early-onset Parkinson disease 6 |
| RS775809722 | Health Risk | Likely pathogenic | Autosomal recessive early-onset Parkinson disease 6, Autosomal recessive early-onset Parkinson disease 6 |
| RS777146957 | Health Risk | Likely pathogenic | Autosomal recessive early-onset Parkinson disease 6, Autosomal recessive early-onset Parkinson disease 6 |
| RS1005937012 | Health Risk | Pathogenic | Autosomal recessive early-onset Parkinson disease 6, Autosomal recessive early-onset Parkinson disease 6 |
| RS119451946 | Health Risk | Pathogenic | Parkinson disease, autosomal recessive early-onset, digenic |
| RS1480758482 | Health Risk | Pathogenic | Autosomal recessive early-onset Parkinson disease 6, Autosomal recessive early-onset Parkinson disease 6 |
| RS1557561340 | Health Risk | Pathogenic | Autosomal recessive early-onset Parkinson disease 6, Autosomal recessive early-onset Parkinson disease 6 |
| RS1570409378 | Health Risk | Pathogenic | Autosomal recessive early-onset Parkinson disease 6, Autosomal recessive early-onset Parkinson disease 6 |
| RS2053233432 | Health Risk | Pathogenic | Autosomal recessive early-onset Parkinson disease 6, Autosomal recessive early-onset Parkinson disease 6 |
| RS2154533643 | Health Risk | Pathogenic | Autosomal recessive early-onset Parkinson disease 6, Autosomal recessive early-onset Parkinson disease 6 |
| RS2545245493 | Health Risk | Pathogenic | Autosomal recessive early-onset Parkinson disease 6, Autosomal recessive early-onset Parkinson disease 6 |
| RS2545252983 | Health Risk | Pathogenic | Autosomal recessive early-onset Parkinson disease 6, Autosomal recessive early-onset Parkinson disease 6 |
| RS2545264595 | Health Risk | Pathogenic | Autosomal recessive early-onset Parkinson disease 6, Autosomal recessive early-onset Parkinson disease 6 |
| RS28940284 | Health Risk | Pathogenic | Autosomal recessive early-onset Parkinson disease 6, Autosomal recessive early-onset Parkinson disease 6 |
| RS28940285 | Health Risk | Pathogenic | Autosomal recessive early-onset Parkinson disease 6, Autosomal recessive early-onset Parkinson disease 6 |
| RS34208370 | Health Risk | Pathogenic | Autosomal recessive early-onset Parkinson disease 6, PINK1-related disorder, Thymoma |