LRRK2 Chromosome 12
Leucine rich repeat kinase 2
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What This Gene Does
This gene is a member of the leucine-rich repeat kinase family and encodes a protein with an ankryin repeat region, a leucine-rich repeat (LRR) domain, a kinase domain, a DFG-like motif, a RAS domain, a GTPase domain, a MLK-like domain, and a WD40 domain. The protein is present largely in the cytoplasm but also associates with the mitochondrial outer membrane. Mutations in this gene have been associated with Parkinson disease-8. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
"ROCO family|Armadillo like helical domain containing|Leucine rich repeat kinase family"
Locus Type
gene with protein product
Location
12q12
Ensembl
ENSG00000188906
Associated Conditions (16)
Autosomal dominant Parkinson disease 8
Inborn genetic diseases
Sarcoma
Parkinson disease
Acute myeloid leukemia
Early onset Alzheimer disease with behavioral disturbance
Spinocerebellar atrophy
Klippel-Feil syndrome 1
autosomal dominant
LRRK2-related disorder
late-onset
Interstitial pulmonary disease
Young-onset Parkinson disease
Leprosy
susceptibility to
1
Key Variants
RS111691891
Conflicting classifications of pathogenicity
Autosomal dominant Parkinson disease 8, Autosomal dominant Parkinson disease 8
Health Risk
RS112794616
Conflicting classifications of pathogenicity
Autosomal dominant Parkinson disease 8, Autosomal dominant Parkinson disease 8
Health Risk
RS113511708
Conflicting classifications of pathogenicity
Autosomal dominant Parkinson disease 8, Autosomal dominant Parkinson disease 8
Health Risk
RS11564176
Conflicting classifications of pathogenicity
Autosomal dominant Parkinson disease 8, Autosomal dominant Parkinson disease 8
Health Risk
RS1179163564
Conflicting classifications of pathogenicity
Autosomal dominant Parkinson disease 8, Inborn genetic diseases, Autosomal dominant Parkinson disease 8
Health Risk
RS138264225
Conflicting classifications of pathogenicity
Autosomal dominant Parkinson disease 8, Inborn genetic diseases, Autosomal dominant Parkinson disease 8
Health Risk
RS139746572
Conflicting classifications of pathogenicity
Autosomal dominant Parkinson disease 8, Inborn genetic diseases, Autosomal dominant Parkinson disease 8
Health Risk
RS141221000
Conflicting classifications of pathogenicity
Autosomal dominant Parkinson disease 8, Sarcoma, Autosomal dominant Parkinson disease 8
Health Risk
RS141262110
Conflicting classifications of pathogenicity
Autosomal dominant Parkinson disease 8, Inborn genetic diseases, Autosomal dominant Parkinson disease 8
Health Risk
RS1422910994
Conflicting classifications of pathogenicity
Autosomal dominant Parkinson disease 8, Autosomal dominant Parkinson disease 8
Health Risk
RS148143226
Conflicting classifications of pathogenicity
Autosomal dominant Parkinson disease 8, Inborn genetic diseases, Autosomal dominant Parkinson disease 8
Health Risk
RS150422099
Conflicting classifications of pathogenicity
Autosomal dominant Parkinson disease 8, Autosomal dominant Parkinson disease 8
Health Risk
All Variants (65)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS774148061 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS78501232 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant Parkinson disease 8, Autosomal dominant Parkinson disease 8 |
| RS886049357 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant Parkinson disease 8, Inborn genetic diseases, Autosomal dominant Parkinson disease 8 |
| RS886049359 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Autosomal dominant Parkinson disease 8, Inborn genetic diseases |
| RS886344692 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant Parkinson disease 8, Inborn genetic diseases, Autosomal dominant Parkinson disease 8 |
| RS975786488 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Autosomal dominant Parkinson disease 8, Inborn genetic diseases |
| RS34778348 | Health Risk | Conflicting classifications of pathogenicity; risk factor | Autosomal dominant Parkinson disease 8, Parkinson disease, Autosomal dominant Parkinson disease 8 |
| RS33939927 | Health Risk | Likely pathogenic | Autosomal dominant Parkinson disease 8, Autosomal dominant Parkinson disease 8, Parkinson disease |
| RS2499873877 | Health Risk | Pathogenic | Interstitial pulmonary disease, Interstitial pulmonary disease |
| RS34805604 | Health Risk | Pathogenic | Autosomal dominant Parkinson disease 8, Autosomal dominant Parkinson disease 8 |
| RS35801418 | Health Risk | Pathogenic | Autosomal dominant Parkinson disease 8, Autosomal dominant Parkinson disease 8 |
| RS35870237 | Health Risk | Pathogenic | Autosomal dominant Parkinson disease 8, Autosomal dominant Parkinson disease 8 |
| RS34995376 | Health Risk | Pathogenic/Likely pathogenic | Autosomal dominant Parkinson disease 8, Autosomal dominant Parkinson disease 8 |
| RS34637584 | Health Risk | Pathogenic/Likely pathogenic; risk factor | Autosomal dominant Parkinson disease 8, Inborn genetic diseases, Young-onset Parkinson disease |
| RS1427267 | Health Risk | Uncertain risk allele | Leprosy, susceptibility to, 1 |