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 |
|---|---|---|---|
| RS45539432 | Health Risk | Pathogenic | Autosomal recessive early-onset Parkinson disease 6, PINK1-related disorder, Autosomal recessive early-onset Parkinson disease 6 |
| RS730880302 | Health Risk | Pathogenic | Autosomal recessive early-onset Parkinson disease 6, Autosomal recessive early-onset Parkinson disease 6 |
| RS74315355 | Health Risk | Pathogenic | Autosomal recessive early-onset Parkinson disease 6, Autosomal recessive early-onset Parkinson disease 6 |
| RS74315356 | Health Risk | Pathogenic | Autosomal recessive early-onset Parkinson disease 6, Autosomal recessive early-onset Parkinson disease 6 |
| RS74315357 | Health Risk | Pathogenic | Autosomal recessive early-onset Parkinson disease 6, Autosomal recessive early-onset Parkinson disease 6 |
| RS74315360 | Health Risk | Pathogenic | Autosomal recessive early-onset Parkinson disease 6, Autosomal recessive early-onset Parkinson disease 6 |
| RS750664040 | Health Risk | Pathogenic | Autosomal recessive early-onset Parkinson disease 6, Autosomal recessive early-onset Parkinson disease 6 |
| RS755000580 | Health Risk | Pathogenic | Autosomal recessive early-onset Parkinson disease 6, Autosomal recessive early-onset Parkinson disease 6 |
| RS756677845 | Health Risk | Pathogenic | Autosomal recessive early-onset Parkinson disease 6, Autosomal recessive early-onset Parkinson disease 6 |
| RS756783990 | Health Risk | Pathogenic | Autosomal recessive early-onset Parkinson disease 6, Autosomal recessive early-onset Parkinson disease 6 |
| RS775479526 | Health Risk | Pathogenic | Autosomal recessive early-onset Parkinson disease 6, PINK1-related disorder, Autosomal recessive early-onset Parkinson disease 6 |
| RS777160388 | Health Risk | Pathogenic | Autosomal recessive early-onset Parkinson disease 6, Autosomal recessive early-onset Parkinson disease 6 |
| RS1388721898 | Health Risk | Pathogenic/Likely pathogenic | Autosomal recessive early-onset Parkinson disease 6, Autosomal recessive early-onset Parkinson disease 6 |
| RS1432225013 | Health Risk | Pathogenic/Likely pathogenic | Autosomal recessive early-onset Parkinson disease 6, Autosomal recessive early-onset Parkinson disease 6 |
| RS2053228483 | Health Risk | Pathogenic/Likely pathogenic | Autosomal recessive early-onset Parkinson disease 6, Autosomal recessive early-onset Parkinson disease 6 |
| RS74315359 | Health Risk | Pathogenic/Likely pathogenic | Autosomal recessive early-onset Parkinson disease 6, Autosomal recessive early-onset Parkinson disease 6 |
| RS74315361 | Health Risk | risk factor | Parkinson disease 6, Parkinson disease 6 |
| RS650616 | Health Risk | Uncertain risk allele | Leprosy, susceptibility to, 1 |