LRRK2 (leucine rich repeat kinase 2) - Rat Genome Database

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Gene: LRRK2 (leucine rich repeat kinase 2) Homo sapiens
Analyze
Symbol: LRRK2
Name: leucine rich repeat kinase 2
RGD ID: 1353141
HGNC Page HGNC:18618
Description: Enables several functions, including GTP binding activity; cytoskeletal protein binding activity; and protein serine/threonine kinase activity. Involved in several processes, including intracellular signaling cassette; regulation of protein metabolic process; and regulation of signal transduction. Located in several cellular components, including caveola neck; cytoplasmic vesicle; and vacuole. Part of Wnt signalosome. Implicated in Crohn's disease; Parkinson's disease; Parkinson's disease 8; Parkinsonism; and cancer. Biomarker of Parkinson's disease; amyotrophic lateral sclerosis; frontotemporal dementia; and rheumatoid arthritis.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: augmented in rheumatoid arthritis 17; AURA17; DARDARIN; leucine-rich repeat kinase 2; leucine-rich repeat serine/threonine-protein kinase 2; PARK8; Parkinson disease (autosomal dominant) 8; RIPK7; ROCO2
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Is Marker For: Strains:   SD-Tg(LRRK2*R1441C)268Rwm   SD-Tg(LRRK2*G2019S)418Rwm   SD-Tg(LRRK2)302Rwn  
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381240,224,997 - 40,369,285 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1240,196,744 - 40,369,285 (+)EnsemblGRCh38hg38GRCh38
GRCh371240,618,799 - 40,763,087 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361238,905,081 - 39,049,354 (+)NCBINCBI36Build 36hg18NCBI36
Celera1239,422,059 - 39,566,110 (+)NCBICelera
Cytogenetic Map12q12NCBI
HuRef1237,646,624 - 37,790,676 (+)NCBIHuRef
CHM1_11240,584,126 - 40,728,194 (+)NCBICHM1_1
T2T-CHM13v2.01240,177,355 - 40,321,422 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(S)-naringenin  (ISO)
1,1-dichloroethene  (ISO)
1,2-dimethylhydrazine  (ISO)
1-methyl-4-phenyl-1,2,3,6-tetrahydropyridine  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
3-methyladenine  (EXP)
4-hydroxyphenyl retinamide  (ISO)
6-propyl-2-thiouracil  (ISO)
acetamide  (ISO)
acrylamide  (ISO)
aflatoxin B1  (EXP)
Aflatoxin B2 alpha  (EXP)
all-trans-retinoic acid  (EXP)
amphetamine  (ISO)
arsenite(3-)  (ISO)
bafilomycin A1  (EXP)
benzo[a]pyrene  (EXP,ISO)
benzo[e]pyrene  (EXP)
bisphenol A  (EXP,ISO)
butanal  (EXP)
cadmium atom  (EXP,ISO)
cadmium dichloride  (EXP)
carbon nanotube  (ISO)
CGP 52608  (EXP)
chlorpyrifos  (ISO)
cisplatin  (EXP)
clozapine  (EXP)
copper(II) sulfate  (EXP)
corticosterone  (ISO)
crocidolite asbestos  (ISO)
DDE  (EXP)
Dibutyl phosphate  (EXP)
dimethylarsinic acid  (ISO)
dioxygen  (EXP)
dopamine  (EXP)
dorsomorphin  (EXP)
doxorubicin  (EXP)
endosulfan  (ISO)
ethanol  (ISO)
ethyl methanesulfonate  (EXP)
fenamidone  (ISO)
folic acid  (ISO)
furan  (ISO)
gentamycin  (ISO)
GTP  (EXP)
hydrogen peroxide  (EXP,ISO)
lactacystin  (EXP)
lead(0)  (ISO)
lipopolysaccharide  (EXP,ISO)
luteolin  (ISO)
maneb  (EXP,ISO)
manganese atom  (EXP)
manganese(0)  (EXP)
methapyrilene  (EXP)
methoxychlor  (ISO)
methylarsonic acid  (ISO)
N,N-diethyl-m-toluamide  (ISO)
N-acetyl-L-cysteine  (EXP,ISO)
N-benzyloxycarbonyl-L-leucyl-L-leucyl-L-leucinal  (EXP)
N-methyl-4-phenylpyridinium  (EXP)
nickel atom  (EXP)
paracetamol  (EXP,ISO)
paraquat  (EXP,ISO)
pentanal  (EXP)
perfluorohexanesulfonic acid  (ISO)
perfluorooctane-1-sulfonic acid  (EXP)
permethrin  (ISO)
pirinixic acid  (EXP,ISO)
resveratrol  (EXP)
rotenone  (EXP,ISO)
S-(1,2-dichlorovinyl)-L-cysteine  (EXP)
SB 431542  (EXP)
sodium arsenate  (ISO)
sodium arsenite  (EXP,ISO)
sulforaphane  (ISO)
sunitinib  (EXP)
thioacetamide  (ISO)
titanium dioxide  (EXP)
trichloroethene  (ISO)
trichostatin A  (EXP)
trimellitic anhydride  (ISO)
triphenyl phosphate  (EXP)
tris(2-butoxyethyl) phosphate  (EXP)
trovafloxacin  (ISO)
tungsten  (ISO)
valproic acid  (EXP)
zoledronic acid  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
autophagy  (IEA)
calcium-mediated signaling  (IMP)
canonical Wnt signaling pathway  (TAS)
cell communication  (IEA)
cell differentiation  (IEA)
cellular response to dopamine  (IMP)
cellular response to manganese ion  (IMP)
cellular response to organic cyclic compound  (IEA,ISO)
cellular response to oxidative stress  (IMP)
cellular response to reactive oxygen species  (IMP)
cellular response to starvation  (IMP)
chromatin remodeling  (IEA)
determination of adult lifespan  (IMP)
endocytosis  (IGI,IMP)
endoplasmic reticulum organization  (IEA,IMP)
excitatory postsynaptic potential  (IEA,ISS)
exploration behavior  (IMP)
Golgi organization  (IEA,IMP,ISO)
GTP metabolic process  (IDA)
intracellular distribution of mitochondria  (IMP)
intracellular signal transduction  (IEA,ISS)
JNK cascade  (IDA)
locomotory exploration behavior  (IEA)
lysosome organization  (IMP)
MAPK cascade  (IDA)
mitochondrion localization  (IMP)
mitochondrion organization  (IMP)
negative regulation of autophagosome assembly  (IMP)
negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway  (IMP)
negative regulation of excitatory postsynaptic potential  (IEA,ISS)
negative regulation of GTPase activity  (IDA)
negative regulation of late endosome to lysosome transport  (TAS)
negative regulation of macroautophagy  (IMP)
negative regulation of neuron projection development  (IEA,ISO)
negative regulation of Notch signaling pathway  (IEA,ISO)
negative regulation of protein phosphorylation  (ISO)
negative regulation of protein processing  (IDA)
negative regulation of protein processing involved in protein targeting to mitochondrion  (IC)
negative regulation of protein targeting to mitochondrion  (IDA)
negative regulation of thioredoxin peroxidase activity by peptidyl-threonine phosphorylation  (IDA)
neuromuscular junction development  (IMP)
neuron differentiation  (IEA,ISO)
neuron projection arborization  (IEA,ISO)
neuron projection morphogenesis  (IMP)
olfactory bulb development  (IMP)
peptidyl-serine phosphorylation  (IDA)
peptidyl-threonine phosphorylation  (IDA,IMP)
phosphorylation  (IEA,IMP)
positive regulation of autophagy  (IEA,IMP,ISS)
positive regulation of canonical Wnt signaling pathway  (IGI)
positive regulation of dopamine receptor signaling pathway  (IMP)
positive regulation of MAP kinase activity  (IC,IMP)
positive regulation of microglial cell activation  (IEA,ISO)
positive regulation of nitric-oxide synthase biosynthetic process  (IEA,ISO)
positive regulation of programmed cell death  (IDA)
positive regulation of proteasomal ubiquitin-dependent protein catabolic process  (IEA,ISS)
positive regulation of protein autoubiquitination  (IDA)
positive regulation of protein kinase activity  (IDA)
positive regulation of protein phosphorylation  (IDA,IMP)
positive regulation of protein ubiquitination  (IDA)
positive regulation of synaptic vesicle endocytosis  (IEA,ISO)
positive regulation of tumor necrosis factor production  (IEA,ISO)
protein autophosphorylation  (IDA,IMP)
protein import into nucleus  (IEA,ISO)
protein localization  (IEA,ISS)
protein localization to endoplasmic reticulum exit site  (IEA,IMP)
protein localization to mitochondrion  (TAS)
protein phosphorylation  (IDA,IEA,IMP)
regulation of autophagy  (IMP)
regulation of branching morphogenesis of a nerve  (IMP)
regulation of CAMKK-AMPK signaling cascade  (IMP)
regulation of cAMP/PKA signal transduction  (IEA,ISS)
regulation of canonical Wnt signaling pathway  (IEA,TAS)
regulation of dendritic spine morphogenesis  (IEA,IMP,ISS)
regulation of dopamine receptor signaling pathway  (IEA,ISS)
regulation of ER to Golgi vesicle-mediated transport  (IEA,ISS)
regulation of gene expression  (IEA,ISO)
regulation of kidney size  (IEA,ISS)
regulation of locomotion  (IMP)
regulation of lysosomal lumen pH  (IMP)
regulation of membrane potential  (IMP)
regulation of mitochondrial depolarization  (IMP)
regulation of mitochondrial fission  (TAS)
regulation of neuroblast proliferation  (IMP)
regulation of neuron maturation  (IMP)
regulation of protein kinase A signaling  (ISO)
regulation of protein stability  (IMP)
regulation of reactive oxygen species metabolic process  (IMP)
regulation of retrograde transport, endosome to Golgi  (IGI)
regulation of signal transduction  (IEA)
regulation of synaptic transmission, glutamatergic  (IEA,ISS)
regulation of synaptic vesicle endocytosis  (IEA)
regulation of synaptic vesicle exocytosis  (IMP)
regulation of synaptic vesicle transport  (IEA,ISS,TAS)
response to oxidative stress  (IMP)
Rho protein signal transduction  (IDA)
signal transduction  (IBA)
spermatogenesis  (IEA,ISO)
striatum development  (IEA,ISO)
tangential migration from the subventricular zone to the olfactory bulb  (IMP)
Wnt signalosome assembly  (IPI,TAS)

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abnormal autonomic nervous system physiology  (IAGP)
Abnormal pulmonary interstitial morphology  (IAGP)
Abnormality of mental function  (IAGP)
Abnormality of the sense of smell  (IAGP)
Agitation  (IAGP)
Akinesia  (IAGP)
Anxiety  (IAGP)
Apathy  (IAGP)
Autosomal dominant inheritance  (IAGP)
Bradykinesia  (IAGP)
Brain atrophy  (IAGP)
Cerebral cortical atrophy  (IAGP)
Chronic constipation  (IAGP)
Cognitive impairment  (IAGP)
Color vision defect  (IAGP)
Constipation  (IAGP)
Dementia  (IAGP)
Depression  (IAGP)
Diarrhea  (IAGP)
Diplopia  (IAGP)
Dyskinesia  (IAGP)
Dysphagia  (IAGP)
Dystonia  (IAGP)
Female sexual dysfunction  (IAGP)
Frequent falls  (IAGP)
Frontal lobe dementia  (IAGP)
Frontotemporal dementia  (IAGP)
Gait disturbance  (IAGP)
Gait imbalance  (IAGP)
Gastroparesis  (IAGP)
Gliosis  (IAGP)
Hallucinations  (IAGP)
Hyperreflexia  (IAGP)
Hypomimic face  (IAGP)
Hyposmia  (IAGP)
Impulsivity  (IAGP)
Insomnia  (IAGP)
Late onset  (IAGP)
Lewy bodies  (IAGP)
Low frustration tolerance  (IAGP)
Male sexual dysfunction  (IAGP)
Mental deterioration  (IAGP)
Monotonic speech  (IAGP)
Muscle spasm  (IAGP)
Nausea  (IAGP)
Neoplasm  (IAGP)
Orthostatic hypotension due to autonomic dysfunction  (IAGP)
Panic attack  (IAGP)
Parkinsonism  (IAGP)
Parkinsonism with favorable response to dopaminergic medication  (IAGP)
Postural instability  (IAGP)
Reduced social responsiveness  (IAGP)
Resting tremor  (IAGP)
Restless legs  (IAGP)
Rigidity  (IAGP)
Schizophrenia  (IAGP)
Short attention span  (IAGP)
Shuffling gait  (IAGP)
Sleep abnormality  (IAGP)
Slowly progressive  (IAGP)
Spastic/hyperactive bladder  (IAGP)
Spasticity  (IAGP)
Spinocerebellar atrophy  (IAGP)
Substantia nigra gliosis  (IAGP)
Tremor  (IAGP)
Typified by incomplete penetrance  (IAGP)
Visual hallucination  (IAGP)
Weight loss  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. Novel pathogenic LRRK2 p.Asn1437His substitution in familial Parkinson's disease. Aasly JO, etal., Mov Disord. 2010 Oct 15;25(13):2156-63.
2. Genes associated with Parkinson's disease: regulation of autophagy and beyond. Beilina A and Cookson MR, J Neurochem. 2015 Jul 30. doi: 10.1111/jnc.13266.
3. Clinical and brain imaging characteristics in leucine-rich repeat kinase 2-associated PD and asymptomatic mutation carriers. Brockmann K, etal., Mov Disord. 2011 Oct 11. doi: 10.1002/mds.23991.
4. LRRK2 R1398H polymorphism is associated with decreased risk of Parkinson's disease in a Han Chinese population. Chen L, etal., Parkinsonism Relat Disord. 2011 May;17(4):291-2. Epub 2010 Dec 14.
5. Abrogation of a-synuclein-mediated dopaminergic neurodegeneration in LRRK2-deficient rats. Daher JP, etal., Proc Natl Acad Sci U S A. 2014 Jun 24;111(25):9289-94. doi: 10.1073/pnas.1403215111. Epub 2014 Jun 9.
6. Impaired intracellular trafficking defines early Parkinson's disease. Hunn BH, etal., Trends Neurosci. 2015 Mar;38(3):178-88. doi: 10.1016/j.tins.2014.12.009. Epub 2015 Jan 29.
7. Inhibitors of leucine-rich repeat kinase-2 protect against models of Parkinson's disease. Lee BD, etal., Nat Med. 2010 Sep;16(9):998-1000. Epub 2010 Aug 22.
8. Lrrk2 S1647T and BDNF V66M interact with environmental factors to increase risk of Parkinson's disease. Lin CH, etal., Parkinsonism Relat Disord. 2011 Feb;17(2):84-8. Epub 2010 Dec 16.
9. The kinase LRRK2 is a regulator of the transcription factor NFAT that modulates the severity of inflammatory bowel disease. Liu Z, etal., Nat Immunol. 2011 Oct 9. doi: 10.1038/ni.2113.
10. Lrrk2 and chronic inflammation are linked to pallido-ponto-nigral degeneration caused by the N279K tau mutation. Miklossy J, etal., Acta Neuropathol. 2007 Sep;114(3):243-54. Epub 2007 Jul 17.
11. Gait alterations in healthy carriers of the LRRK2 G2019S mutation. Mirelman A, etal., Ann Neurol. 2011 Jan;69(1):193-7. doi: 10.1002/ana.22165.
12. Isolation and expression profiling of genes upregulated in bone marrow-derived mononuclear cells of rheumatoid arthritis patients. Nakamura N, etal., DNA Res. 2006 Aug 31;13(4):169-83.
13. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
14. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
15. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
16. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
17. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
18. Penetrance in Parkinson's disease related to the LRRK2 R1441G mutation in the Basque country (Spain). Ruiz-Martinez J, etal., Mov Disord. 2010 Oct 30;25(14):2340-5.
19. LRRK2 G2019S mutations are associated with an increased cancer risk in Parkinson disease. Saunders-Pullman R, etal., Mov Disord. 2010 Nov 15;25(15):2536-41.
20. Comprehensive mutational analysis of LRRK2 reveals variants supporting association with autosomal dominant Parkinson's disease. Seki N, etal., J Hum Genet. 2011 Sep;56(9):671-5. doi: 10.1038/jhg.2011.79. Epub 2011 Jul 28.
21. Differential gene expression in patients with amyotrophic lateral sclerosis. Shtilbans A, etal., Amyotroph Lateral Scler. 2011 Jul;12(4):250-6. Epub 2011 Mar 4.
22. High frequency and reduced penetrance of lRRK2 g2019S mutation among Parkinson's disease patients in Cantabria (Spain). Sierra M, etal., Mov Disord. 2011 Sep 27. doi: 10.1002/mds.23965.
23. LRRK2 G2019S mutation does not contribute to Parkinson's disease in South India. Vijayan B, etal., Neurol India. 2011 Mar-Apr;59(2):157-60.
24. Leucine-rich repeat kinase 2 is associated with the endoplasmic reticulum in dopaminergic neurons and accumulates in the core of Lewy bodies in Parkinson disease. Vitte J, etal., J Neuropathol Exp Neurol. 2010 Sep;69(9):959-72.
25. Mitochondrial dysfunction driven by the LRRK2-mediated pathway is associated with loss of Purkinje cells and motor coordination deficits in diabetic rat model. Yang S, etal., Cell Death Dis. 2014 May 8;5:e1217. doi: 10.1038/cddis.2014.184.
Additional References at PubMed
PMID:11891824   PMID:12213963   PMID:12477932   PMID:14691730   PMID:14702039   PMID:15146197   PMID:15541308   PMID:15541309   PMID:15680455   PMID:15680456   PMID:15680457   PMID:15726496  
PMID:15732108   PMID:15811454   PMID:15852371   PMID:15880653   PMID:15884041   PMID:15925109   PMID:15929036   PMID:15955578   PMID:15955629   PMID:16001413   PMID:16081470   PMID:16087219  
PMID:16102903   PMID:16102999   PMID:16115731   PMID:16145815   PMID:16149095   PMID:16157901   PMID:16157908   PMID:16157909   PMID:16172858   PMID:16240353   PMID:16247070   PMID:16250030  
PMID:16251215   PMID:16254973   PMID:16269443   PMID:16269541   PMID:16272164   PMID:16272257   PMID:16275903   PMID:16298482   PMID:16321986   PMID:16333314   PMID:16352719   PMID:16436781  
PMID:16436782   PMID:16437559   PMID:16467219   PMID:16511860   PMID:16532471   PMID:16533964   PMID:16602113   PMID:16614029   PMID:16616379   PMID:16622854   PMID:16622859   PMID:16632201  
PMID:16633828   PMID:16643318   PMID:16671078   PMID:16728648   PMID:16750377   PMID:16750929   PMID:16758483   PMID:16781064   PMID:16817197   PMID:16822348   PMID:16865326   PMID:16928343  
PMID:16939701   PMID:16966498   PMID:16966501   PMID:16966502   PMID:16966681   PMID:16980962   PMID:16991141   PMID:17017533   PMID:17017534   PMID:17019612   PMID:17020475   PMID:17044089  
PMID:17050822   PMID:17052850   PMID:17060595   PMID:17078063   PMID:17080443   PMID:17083102   PMID:17095157   PMID:17097110   PMID:17114044   PMID:17115391   PMID:17116211   PMID:17120249  
PMID:17149721   PMID:17151837   PMID:17160203   PMID:17179858   PMID:17187665   PMID:17200152   PMID:17215492   PMID:17216639   PMID:17222106   PMID:17222580   PMID:17225181   PMID:17230458  
PMID:17235449   PMID:17253937   PMID:17260967   PMID:17314670   PMID:17324517   PMID:17335904   PMID:17341485   PMID:17352347   PMID:17353388   PMID:17377919   PMID:17385669   PMID:17388990  
PMID:17394548   PMID:17395370   PMID:17400507   PMID:17409193   PMID:17419834   PMID:17427941   PMID:17433753   PMID:17440812   PMID:17442267   PMID:17447891   PMID:17469194   PMID:17470139  
PMID:17482357   PMID:17512502   PMID:17523199   PMID:17540608   PMID:17584768   PMID:17596714   PMID:17611037   PMID:17614198   PMID:17622782   PMID:17625107   PMID:17659642   PMID:17706965  
PMID:17720280   PMID:17803032   PMID:17803033   PMID:17804834   PMID:17846883   PMID:17868389   PMID:17880562   PMID:17914064   PMID:17938369   PMID:17960808   PMID:17971075   PMID:17978862  
PMID:17999435   PMID:18045479   PMID:18097165   PMID:18097693   PMID:18098275   PMID:18182054   PMID:18197194   PMID:18201193   PMID:18201824   PMID:18211709   PMID:18213618   PMID:18214993  
PMID:18230735   PMID:18265005   PMID:18272292   PMID:18316234   PMID:18322385   PMID:18322396   PMID:18337586   PMID:18338801   PMID:18353371   PMID:18367605   PMID:18378882   PMID:18379513  
PMID:18397888   PMID:18412265   PMID:18434642   PMID:18435766   PMID:18445495   PMID:18450497   PMID:18464276   PMID:18484993   PMID:18486522   PMID:18523722   PMID:18523869   PMID:18539534  
PMID:18539535   PMID:18541113   PMID:18544747   PMID:18556235   PMID:18587394   PMID:18602856   PMID:18617409   PMID:18621566   PMID:18634852   PMID:18644660   PMID:18665323   PMID:18666856  
PMID:18675914   PMID:18701920   PMID:18704525   PMID:18716801   PMID:18718805   PMID:18752982   PMID:18781329   PMID:18804399   PMID:18805725   PMID:18809839   PMID:18848304   PMID:18923807  
PMID:18927607   PMID:18936941   PMID:18952485   PMID:18973254   PMID:18973807   PMID:18980856   PMID:18981379   PMID:18986508   PMID:19001729   PMID:19006185   PMID:19020907   PMID:19021752  
PMID:19025767   PMID:19029519   PMID:19041274   PMID:19056867   PMID:19065525   PMID:19076219   PMID:19172321   PMID:19176810   PMID:19196961   PMID:19204172   PMID:19205068   PMID:19224617  
PMID:19283415   PMID:19302196   PMID:19308469   PMID:19330201   PMID:19343804   PMID:19353692   PMID:19357115   PMID:19397894   PMID:19405094   PMID:19412725   PMID:19458969   PMID:19472409  
PMID:19473361   PMID:19489756   PMID:19513331   PMID:19527940   PMID:19535993   PMID:19536328   PMID:19538213   PMID:19545277   PMID:19559761   PMID:19570025   PMID:19576176   PMID:19625296  
PMID:19625511   PMID:19640773   PMID:19640926   PMID:19672984   PMID:19680143   PMID:19692353   PMID:19699188   PMID:19712061   PMID:19714762   PMID:19726410   PMID:19733152   PMID:19735093  
PMID:19741132   PMID:19756366   PMID:19760754   PMID:19769964   PMID:19770575   PMID:19800393   PMID:19804413   PMID:19822953   PMID:19824698   PMID:19826009   PMID:19833102   PMID:19847307  
PMID:19854095   PMID:19878656   PMID:19879329   PMID:19890007   PMID:19912990   PMID:19915575   PMID:19915576   PMID:19945904   PMID:20001906   PMID:20004703   PMID:20008657   PMID:20018409  
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PMID:23250886   PMID:23251661   PMID:23268655   PMID:23300640   PMID:23318930   PMID:23325906   PMID:23357204   PMID:23379419   PMID:23389884   PMID:23395371   PMID:23421816   PMID:23455607  
PMID:23472874   PMID:23507417   PMID:23531835   PMID:23588498   PMID:23624603   PMID:23628791   PMID:23664753   PMID:23726462   PMID:23764467   PMID:23771111   PMID:23813973   PMID:23820587  
PMID:23824357   PMID:23842774   PMID:23886663   PMID:23895867   PMID:23913756   PMID:23916833   PMID:23924436   PMID:23932063   PMID:23937259   PMID:23937295   PMID:23938341   PMID:23949442  
PMID:23963289   PMID:23967090   PMID:24014121   PMID:24015287   PMID:24018986   PMID:24040382   PMID:24046064   PMID:24080176   PMID:24095219   PMID:24113872   PMID:24115276   PMID:24123150  
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PMID:29812962   PMID:29884186   PMID:29894291   PMID:29903014   PMID:29917075   PMID:29987050   PMID:29989150   PMID:30021884   PMID:30039155   PMID:30049590   PMID:30055128   PMID:30067506  
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PMID:33640967   PMID:33765413   PMID:33769432   PMID:33781610   PMID:33784003   PMID:33876242   PMID:33881531   PMID:33894056   PMID:33915162   PMID:33918221   PMID:33938021   PMID:33960369  
PMID:33998549   PMID:34008015   PMID:34043192   PMID:34060004   PMID:34088839   PMID:34107286   PMID:34114604   PMID:34125248   PMID:34145320   PMID:34196120   PMID:34272628   PMID:34328508  
PMID:34382495   PMID:34425330   PMID:34495322   PMID:34542912   PMID:34551822   PMID:34590578   PMID:34626666   PMID:34668587   PMID:34686322   PMID:34859503   PMID:34914695   PMID:34929286  
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PMID:36803807   PMID:36972292   PMID:37021623   PMID:37046401   PMID:37066923   PMID:37086089   PMID:37116292   PMID:37133994   PMID:37189360   PMID:37201327   PMID:37207563   PMID:37218402  
PMID:37238714   PMID:37269951   PMID:37371062   PMID:37473971   PMID:37482924   PMID:37584472   PMID:37625589   PMID:37633049   PMID:37674036   PMID:37698513   PMID:37708949   PMID:37759704  
PMID:37788370   PMID:37837096   PMID:37874617   PMID:37889931   PMID:37904222   PMID:38092815   PMID:38135900   PMID:38227290   PMID:38266062   PMID:38287861   PMID:38307024   PMID:38368930  
PMID:38512027   PMID:38599001   PMID:38750146   PMID:38804604   PMID:39062657  


Genomics

Comparative Map Data
LRRK2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381240,224,997 - 40,369,285 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1240,196,744 - 40,369,285 (+)EnsemblGRCh38hg38GRCh38
GRCh371240,618,799 - 40,763,087 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361238,905,081 - 39,049,354 (+)NCBINCBI36Build 36hg18NCBI36
Celera1239,422,059 - 39,566,110 (+)NCBICelera
Cytogenetic Map12q12NCBI
HuRef1237,646,624 - 37,790,676 (+)NCBIHuRef
CHM1_11240,584,126 - 40,728,194 (+)NCBICHM1_1
T2T-CHM13v2.01240,177,355 - 40,321,422 (+)NCBIT2T-CHM13v2.0
Lrrk2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391591,556,994 - 91,700,327 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1591,557,378 - 91,700,323 (+)EnsemblGRCm39 Ensembl
GRCm381591,672,791 - 91,816,124 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1591,673,175 - 91,816,120 (+)EnsemblGRCm38mm10GRCm38
MGSCv371591,503,655 - 91,646,555 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361591,501,048 - 91,643,302 (+)NCBIMGSCv36mm8
Celera1593,785,543 - 93,930,186 (+)NCBICelera
Cytogenetic Map15E3NCBI
cM Map1546.07NCBI
Lrrk2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr87124,706,246 - 124,867,234 (+)NCBIGRCr8
mRatBN7.27122,826,696 - 122,987,711 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl7122,826,696 - 122,987,703 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx7124,609,699 - 124,765,717 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.07126,835,567 - 126,991,586 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.07126,763,694 - 126,919,689 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.07132,857,311 - 133,018,549 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl7132,857,628 - 133,018,584 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.07132,531,591 - 132,694,226 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.47130,105,902 - 130,267,747 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera7119,264,946 - 119,423,875 (+)NCBICelera
Cytogenetic Map7q35NCBI
Lrrk2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495550581,796 - 216,923 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495550584,324 - 216,923 (-)NCBIChiLan1.0ChiLan1.0
LRRK2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21053,787,599 - 53,931,814 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11253,783,370 - 53,928,117 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01248,343,621 - 48,488,337 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11249,205,930 - 49,350,462 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1249,205,930 - 49,350,462 (-)Ensemblpanpan1.1panPan2
LRRK2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12713,282,824 - 13,420,917 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2713,283,756 - 13,420,870 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2733,032,944 - 33,171,543 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02713,454,479 - 13,594,189 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl2713,454,985 - 13,594,935 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.12713,240,908 - 13,387,064 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02713,302,124 - 13,442,060 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02733,159,660 - 33,299,460 (+)NCBIUU_Cfam_GSD_1.0
Lrrk2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494573,794,012 - 73,929,347 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936607626,991 - 761,123 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_004936607628,469 - 761,117 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
LRRK2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl571,800,225 - 71,945,828 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1571,800,337 - 71,945,828 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2574,510,979 - 74,653,410 (+)NCBISscrofa10.2Sscrofa10.2susScr3
LRRK2
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11136,490,775 - 36,634,215 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1136,492,011 - 36,634,216 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_023666037210,139,337 - 210,285,872 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Lrrk2
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_004624778108,761 - 279,230 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_004624778106,594 - 279,325 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in LRRK2
2926 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_198578.4(LRRK2):c.2701_2702delinsCT (p.Ser901Leu) indel Autosomal dominant Parkinson disease 8 [RCV000543093]|LRRK2-related disorder [RCV003905395] Chr12:40293556..40293557 [GRCh38]
Chr12:40687358..40687359 [GRCh37]
Chr12:12q12		 uncertain significance
NM_198578.4(LRRK2):c.7296C>G (p.Gly2432=) single nucleotide variant Autosomal dominant Parkinson disease 8 [RCV001112954]|Inborn genetic diseases [RCV002384141] Chr12:40364956 [GRCh38]
Chr12:40758758 [GRCh37]
Chr12:12q12		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_198578.4(LRRK2):c.5870G>T (p.Arg1957Leu) single nucleotide variant Autosomal dominant Parkinson disease 8 [RCV000550446] Chr12:40335079 [GRCh38]
Chr12:40728881 [GRCh37]
Chr12:12q12		 uncertain significance
NM_198578.4(LRRK2):c.2501-8_2501-7dup duplication not specified [RCV000517617] Chr12:40287341..40287342 [GRCh38]
Chr12:40681143..40681144 [GRCh37]
Chr12:12q12		 benign
NM_198578.4(LRRK2):c.5105T>C (p.Met1702Thr) single nucleotide variant Autosomal dominant Parkinson disease 8 [RCV001857910]|not provided [RCV000994897]|not specified [RCV000518680] Chr12:40321123 [GRCh38]
Chr12:40714925 [GRCh37]
Chr12:12q12		 uncertain significance
NM_198578.4(LRRK2):c.6466G>T (p.Val2156Phe) single nucleotide variant not provided [RCV000519094] Chr12:40351623 [GRCh38]
Chr12:40745425 [GRCh37]
Chr12:12q12		 uncertain significance
NM_198578.4(LRRK2):c.1000G>A (p.Glu334Lys) single nucleotide variant Autosomal dominant Parkinson disease 8 [RCV000032402]|not provided [RCV000415849]|not specified [RCV001659922] Chr12:40251273 [GRCh38]
Chr12:40645075 [GRCh37]
Chr12:12q12		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_198578.4(LRRK2):c.1088A>G (p.Asn363Ser) single nucleotide variant Autosomal dominant Parkinson disease 8 [RCV000032403] Chr12:40251361 [GRCh38]
Chr12:40645163 [GRCh37]
Chr12:12q12		 uncertain significance|not provided
NM_198578.4(LRRK2):c.1096G>A (p.Val366Met) single nucleotide variant Autosomal dominant Parkinson disease 8 [RCV000032404] Chr12:40251369 [GRCh38]
Chr12:40645171 [GRCh37]
Chr12:12q12		 uncertain significance|not provided
NM_198578.4(LRRK2):c.1256C>T (p.Ala419Val) single nucleotide variant Autosomal dominant Parkinson disease 8 [RCV000032405]|LRRK2-related disorder [RCV003914888]|not provided [RCV001719714] Chr12:40252984 [GRCh38]
Chr12:40252984..40252985 [GRCh38]
Chr12:40646786 [GRCh37]
Chr12:40646786..40646787 [GRCh37]
Chr12:12q12		 pathogenic|benign|likely benign
NM_198578.4(LRRK2):c.1383= (p.Ser461=) single nucleotide variant Autosomal dominant Parkinson disease 8 [RCV000032406] Chr12:40257342 [GRCh38]
Chr12:40651144 [GRCh37]
Chr12:12q12		 uncertain significance
NM_198578.4(LRRK2):c.1464A>T (p.Leu488=) single nucleotide variant Autosomal dominant Parkinson disease 8 [RCV000032407]|Inborn genetic diseases [RCV002390128] Chr12:40259525 [GRCh38]
Chr12:40653327 [GRCh37]
Chr12:12q12		 likely benign|uncertain significance|not provided
NM_198578.3(LRRK2):c.149A>G (p.His50Arg) single nucleotide variant Autosomal dominant Parkinson disease 8 [RCV000032408]|not specified [RCV000518786] Chr12:40225280 [GRCh38]
Chr12:40619082 [GRCh37]
Chr12:12q12		 benign|conflicting interpretations of pathogenicity|uncertain significance
NM_198578.4(LRRK2):c.1517G>A (p.Arg506Gln) single nucleotide variant Autosomal dominant Parkinson disease 8 [RCV000032409]|not provided [RCV002277114] Chr12:40259578 [GRCh38]
Chr12:40653380 [GRCh37]
Chr12:12q12		 likely benign|uncertain significance
NM_198578.4(LRRK2):c.155C>T (p.Ser52Phe) single nucleotide variant Autosomal dominant Parkinson disease 8 [RCV000032410] Chr12:40225558 [GRCh38]
Chr12:40619360 [GRCh37]
Chr12:12q12		 uncertain significance|not provided
NM_198578.4(LRRK2):c.1561A>G (p.Arg521Gly) single nucleotide variant Autosomal dominant Parkinson disease 8 [RCV000032411]|not specified [RCV001289088] Chr12:40263806 [GRCh38]
Chr12:40657608 [GRCh37]
Chr12:12q12		 benign|conflicting interpretations of pathogenicity|uncertain significance
NM_198578.4(LRRK2):c.1630A>G (p.Lys544Glu) single nucleotide variant Autosomal dominant Parkinson disease 8 [RCV000032412] Chr12:40263875 [GRCh38]
Chr12:40657677 [GRCh37]
Chr12:12q12		 uncertain significance
NM_198578.4(LRRK2):c.1653C>G (p.Asn551Lys) single nucleotide variant Autosomal dominant Parkinson disease 8 [RCV000032413]|not provided [RCV000712237]|not specified [RCV001725938] Chr12:40263898 [GRCh38]
Chr12:40657700 [GRCh37]
Chr12:12q12		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_198578.4(LRRK2):c.1674= (p.Gly558=) single nucleotide variant Autosomal dominant Parkinson disease 8 [RCV000032414] Chr12:40274600 [GRCh38]
Chr12:40668402 [GRCh37]
Chr12:12q12		 uncertain significance
NM_198578.4(LRRK2):c.1847A>G (p.Lys616Arg) single nucleotide variant Autosomal dominant Parkinson disease 8 [RCV000032415] Chr12:40274899 [GRCh38]
Chr12:40668701 [GRCh37]
Chr12:12q12		 uncertain significance|not provided
NM_198578.4(LRRK2):c.1987T>C (p.Ser663Pro) single nucleotide variant Autosomal dominant Parkinson disease 8 [RCV000032416] Chr12:40277933 [GRCh38]
Chr12:40671735 [GRCh37]
Chr12:12q12		 uncertain significance|not provided
NM_198578.4(LRRK2):c.2022A>C (p.Val674=) single nucleotide variant Autosomal dominant Parkinson disease 8 [RCV000032417]|Inborn genetic diseases [RCV002415444]|not specified [RCV000516879] Chr12:40277968 [GRCh38]
Chr12:40671770 [GRCh37]
Chr12:12q12		 benign|likely benign|uncertain significance
NM_198578.4(LRRK2):c.2134A>G (p.Met712Val) single nucleotide variant Autosomal dominant Parkinson disease 8 [RCV000032418]|not provided [RCV002243678] Chr12:40278154 [GRCh38]
Chr12:40671956 [GRCh37]
Chr12:12q12		 uncertain significance|not provided
NM_198578.4(LRRK2):c.2147C>T (p.Ala716Val) single nucleotide variant Autosomal dominant Parkinson disease 8 [RCV000032419] Chr12:40278167 [GRCh38]
Chr12:40671969 [GRCh37]
Chr12:12q12		 uncertain significance|not provided
NM_198578.4(LRRK2):c.2167A>G (p.Ile723Val) single nucleotide variant Autosomal dominant Parkinson disease 8 [RCV000032420]|not provided [RCV001682719] Chr12:40278187 [GRCh38]
Chr12:40671989 [GRCh37]
Chr12:12q12		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_198578.4(LRRK2):c.225G>A (p.Ala75=) single nucleotide variant Autosomal dominant Parkinson disease 8 [RCV000032421]|Inborn genetic diseases [RCV002444452]|not provided [RCV001705620] Chr12:40225628 [GRCh38]
Chr12:40619430 [GRCh37]
Chr12:12q12		 benign|likely benign|uncertain significance
NM_198578.4(LRRK2):c.2264C>T (p.Pro755Leu) single nucleotide variant Autosomal dominant Parkinson disease 8 [RCV000032422]|not provided [RCV001705621] Chr12:40283897 [GRCh38]
Chr12:40677699 [GRCh37]
Chr12:12q12		 pathogenic|benign|likely benign|conflicting interpretations of pathogenicity
NM_198578.4(LRRK2):c.2378G>T (p.Arg793Met) single nucleotide variant Autosomal dominant Parkinson disease 8 [RCV000032423]|not provided [RCV001354528] Chr12:40284011 [GRCh38]
Chr12:40677813 [GRCh37]
Chr12:12q12		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_198578.4(LRRK2):c.2428A>G (p.Ile810Val) single nucleotide variant Autosomal dominant Parkinson disease 8 [RCV000032424]|not provided [RCV000479404] Chr12:40284061 [GRCh38]
Chr12:40677863 [GRCh37]
Chr12:12q12		 uncertain significance|not provided
NM_198578.4(LRRK2):c.2481T>C (p.Ser827=) single nucleotide variant Autosomal dominant Parkinson disease 8 [RCV000032425]|Inborn genetic diseases [RCV002426533] Chr12:40284114 [GRCh38]
Chr12:40677916 [GRCh37]
Chr12:12q12		 likely benign|uncertain significance
NM_198578.4(LRRK2):c.2611A>G (p.Lys871Glu) single nucleotide variant Autosomal dominant Parkinson disease 8 [RCV000032426] Chr12:40287461 [GRCh38]
Chr12:40681263 [GRCh37]
Chr12:12q12		 uncertain significance|not provided
NM_198578.4(LRRK2):c.2769G>C (p.Gln923His) single nucleotide variant Autosomal dominant Parkinson disease 8 [RCV000032427]|not provided [RCV000483489] Chr12:40293624 [GRCh38]
Chr12:40687426 [GRCh37]
Chr12:12q12		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_198578.4(LRRK2):c.2789A>G (p.Gln930Arg) single nucleotide variant Autosomal dominant Parkinson disease 8 [RCV000032428] Chr12:40293644 [GRCh38]
Chr12:40687446 [GRCh37]
Chr12:12q12		 uncertain significance|not provided
NM_198578.4(LRRK2):c.2830G>T (p.Asp944Tyr) single nucleotide variant Autosomal dominant Parkinson disease 8 [RCV000032429] Chr12:40294866 [GRCh38]
Chr12:40688668 [GRCh37]
Chr12:12q12		 uncertain significance|not provided
NM_198578.4(LRRK2):c.2857T>C (p.Leu953=) single nucleotide variant Autosomal dominant Parkinson disease 8 [RCV000032430]|not provided [RCV000712238]|not specified [RCV001579630] Chr12:40294893 [GRCh38]
Chr12:40688695 [GRCh37]
Chr12:12q12		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_198578.4(LRRK2):c.28G>A (p.Glu10Lys) single nucleotide variant Autosomal dominant Parkinson disease 8 [RCV000032431] Chr12:40225159 [GRCh38]
Chr12:40618961 [GRCh37]
Chr12:12q12		 uncertain significance
NM_198578.4(LRRK2):c.2918G>A (p.Ser973Asn) single nucleotide variant Autosomal dominant Parkinson disease 8 [RCV000032432] Chr12:40295466 [GRCh38]
Chr12:40689268 [GRCh37]
Chr12:12q12		 uncertain significance|not provided
NM_198578.4(LRRK2):c.3018A>G (p.Ile1006Met) single nucleotide variant Autosomal dominant Parkinson disease 8 [RCV000032433] Chr12:40295566 [GRCh38]
Chr12:40689368 [GRCh37]
Chr12:12q12		 uncertain significance
NM_198578.4(LRRK2):c.3021= (p.Ser1007=) single nucleotide variant Autosomal dominant Parkinson disease 8 [RCV000032434] Chr12:40295569 [GRCh38]
Chr12:40689371 [GRCh37]
Chr12:12q12		 uncertain significance
NM_198578.4(LRRK2):c.3200G>A (p.Arg1067Gln) single nucleotide variant Autosomal dominant Parkinson disease 8 [RCV000032435] Chr12:40298346 [GRCh38]
Chr12:40692148 [GRCh37]
Chr12:12q12		 uncertain significance|not provided
NM_198578.4(LRRK2):c.3287C>G (p.Ser1096Cys) single nucleotide variant Autosomal dominant Parkinson disease 8 [RCV000032436] Chr12:40298433 [GRCh38]
Chr12:40692235 [GRCh37]
Chr12:12q12		 uncertain significance
NM_198578.4(LRRK2):c.3333G>T (p.Gln1111His) single nucleotide variant Autosomal dominant Parkinson disease 8 [RCV000032437]|not provided [RCV001705622] Chr12:40298479 [GRCh38]
Chr12:40692281 [GRCh37]
Chr12:12q12		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_198578.4(LRRK2):c.3342A>G (p.Leu1114=) single nucleotide variant Autosomal dominant Parkinson disease 8 [RCV000032438]|Inborn genetic diseases [RCV002321496]|LRRK2-related disorder [RCV003964827]|not provided [RCV000875282]|not specified [RCV001659923] Chr12:40298488 [GRCh38]
Chr12:40692290 [GRCh37]
Chr12:12q12		 pathogenic|benign|likely benign
NM_198578.4(LRRK2):c.3451G>A (p.Ala1151Thr) single nucleotide variant Autosomal dominant Parkinson disease 8 [RCV000032439] Chr12:40299212 [GRCh38]
Chr12:40693014 [GRCh37]
Chr12:12q12		 uncertain significance
NM_198578.4(LRRK2):c.3494T>C (p.Leu1165Pro) single nucleotide variant Autosomal dominant Parkinson disease 8 [RCV000032440] Chr12:40299255 [GRCh38]
Chr12:40693057 [GRCh37]
Chr12:12q12		 uncertain significance|not provided
NM_198578.4(LRRK2):c.356T>C (p.Leu119Pro) single nucleotide variant Autosomal dominant Parkinson disease 8 [RCV000032441]|not provided [RCV000657893] Chr12:40235634 [GRCh38]
Chr12:40629436 [GRCh37]
Chr12:12q12		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_198578.4(LRRK2):c.3574A>G (p.Ile1192Val) single nucleotide variant Autosomal dominant Parkinson disease 8 [RCV000032442] Chr12:40302866 [GRCh38]
Chr12:40696668 [GRCh37]
Chr12:12q12		 uncertain significance
NM_198578.4(LRRK2):c.3647A>G (p.His1216Arg) single nucleotide variant Autosomal dominant Parkinson disease 8 [RCV000032443] Chr12:40304004 [GRCh38]
Chr12:40697806 [GRCh37]
Chr12:12q12		 uncertain significance|not provided
NM_198578.4(LRRK2):c.364= (p.Leu122=) single nucleotide variant Autosomal dominant Parkinson disease 8 [RCV000032444] Chr12:40235642 [GRCh38]
Chr12:40629444 [GRCh37]
Chr12:12q12		 uncertain significance
NM_198578.4(LRRK2):c.3683G>C (p.Ser1228Thr) single nucleotide variant Autosomal dominant Parkinson disease 8 [RCV000032445]|not provided [RCV003390709] Chr12:40304040 [GRCh38]
Chr12:40697842 [GRCh37]
Chr12:12q12		 likely benign|uncertain significance
NM_198578.4(LRRK2):c.3683G>T (p.Ser1228Ile) single nucleotide variant Autosomal dominant Parkinson disease 8 [RCV000032446] Chr12:40304040 [GRCh38]
Chr12:40697842 [GRCh37]
Chr12:12q12		 uncertain significance|not provided
NM_198578.4(LRRK2):c.3784C>G (p.Pro1262Ala) single nucleotide variant Autosomal dominant Parkinson disease 8 [RCV000032447]|LRRK2-related disorder [RCV003914889]|not provided [RCV000873877] Chr12:40305791 [GRCh38]
Chr12:40699593 [GRCh37]
Chr12:12q12		 benign|likely benign|uncertain significance
NM_198578.4(LRRK2):c.3960G>T (p.Arg1320Ser) single nucleotide variant Autosomal dominant Parkinson disease 8 [RCV000032448]|not provided [RCV003390710] Chr12:40308467 [GRCh38]
Chr12:40702269 [GRCh37]
Chr12:12q12		 likely benign|uncertain significance
NM_198578.4(LRRK2):c.3974G>A (p.Arg1325Gln) single nucleotide variant Autosomal dominant Parkinson disease 8 [RCV000032449]|not provided [RCV001731324] Chr12:40308481 [GRCh38]
Chr12:40702283 [GRCh37]
Chr12:12q12		 conflicting interpretations of pathogenicity|uncertain significance
NM_198578.4(LRRK2):c.4111A>G (p.Ile1371Val) single nucleotide variant Autosomal dominant Parkinson disease 8 [RCV000032450]|not provided [RCV003389750] Chr12:40308618 [GRCh38]
Chr12:40702420 [GRCh37]
Chr12:12q12		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_198578.4(LRRK2):c.4125C>A (p.Asp1375Glu) single nucleotide variant Autosomal dominant Parkinson disease 8 [RCV000032451] Chr12:40308632 [GRCh38]
Chr12:40702434 [GRCh37]
Chr12:12q12		 uncertain significance|not provided
NM_198578.4(LRRK2):c.4193G>A (p.Arg1398His) single nucleotide variant Autosomal dominant Parkinson disease 8 [RCV000032452]|not provided [RCV001579406]|not specified [RCV001723597] Chr12:40309109 [GRCh38]
Chr12:40702911 [GRCh37]
Chr12:12q12		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_198578.4(LRRK2):c.4229C>T (p.Thr1410Met) single nucleotide variant Autosomal dominant Parkinson disease 8 [RCV000032453]|LRRK2-related disorder [RCV003924881]|not provided [RCV001564529] Chr12:40309145 [GRCh38]
Chr12:40702947 [GRCh37]
Chr12:12q12		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_198578.4(LRRK2):c.4258G>A (p.Asp1420Asn) single nucleotide variant Autosomal dominant Parkinson disease 8 [RCV000032454] Chr12:40309174 [GRCh38]
Chr12:40702976 [GRCh37]
Chr12:12q12		 uncertain significance|not provided
NM_198578.4(LRRK2):c.4269G>A (p.Lys1423=) single nucleotide variant Autosomal dominant Parkinson disease 8 [RCV000032455]|not provided [RCV000712239]|not specified [RCV001725939] Chr12:40309185 [GRCh38]
Chr12:40702987 [GRCh37]
Chr12:12q12		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_198578.4(LRRK2):c.4290C>T (p.Ala1430=) single nucleotide variant Autosomal dominant Parkinson disease 8 [RCV000032456]|Inborn genetic diseases [RCV002326717]|LRRK2-related disorder [RCV003952383] Chr12:40309206 [GRCh38]
Chr12:40703008 [GRCh37]
Chr12:12q12		 likely benign|uncertain significance|not provided
NM_198578.4(LRRK2):c.4309A>C (p.Asn1437His) single nucleotide variant Autosomal dominant Parkinson disease 8 [RCV000032457] Chr12:40309225 [GRCh38]
Chr12:40703027 [GRCh37]
Chr12:12q12		 pathogenic|not provided
NM_198578.4(LRRK2):c.4323C>T (p.Arg1441=) single nucleotide variant Autosomal dominant Parkinson disease 8 [RCV000032458]|Inborn genetic diseases [RCV002326718] Chr12:40310436 [GRCh38]
Chr12:40704238 [GRCh37]
Chr12:12q12		 likely benign|uncertain significance
NM_198578.4(LRRK2):c.4324G>C (p.Ala1442Pro) single nucleotide variant Autosomal dominant Parkinson disease 8 [RCV000032459] Chr12:40310437 [GRCh38]
Chr12:40704239 [GRCh37]
Chr12:12q12		 uncertain significance|not provided
NM_198578.4(LRRK2):c.4337C>T (p.Pro1446Leu) single nucleotide variant Autosomal dominant Parkinson disease 8 [RCV000032460]|LRRK2-related disorder [RCV003952384] Chr12:40310450 [GRCh38]
Chr12:40704252 [GRCh37]
Chr12:12q12		 likely benign|uncertain significance
NM_198578.4(LRRK2):c.4348G>A (p.Val1450Ile) single nucleotide variant Autosomal dominant Parkinson disease 8 [RCV000032461] Chr12:40310461 [GRCh38]
Chr12:40704263 [GRCh37]
Chr12:12q12		 uncertain significance
NM_198578.4(LRRK2):c.4364_4365del (p.Asp1455fs) deletion Autosomal dominant Parkinson disease 8 [RCV000032462] Chr12:40310477..40310478 [GRCh38]
Chr12:40704279..40704280 [GRCh37]
Chr12:12q12		 uncertain significance|not provided
NM_198578.4(LRRK2):c.4402A>G (p.Lys1468Glu) single nucleotide variant Autosomal dominant Parkinson disease 8 [RCV000032463]|not provided [RCV002269259] Chr12:40310515 [GRCh38]
Chr12:40704317 [GRCh37]
Chr12:12q12		 uncertain significance|not provided
NM_198578.4(LRRK2):c.4448G>A (p.Arg1483Gln) single nucleotide variant Autosomal dominant Parkinson disease 8 [RCV000032464] Chr12:40310561 [GRCh38]
Chr12:40704363 [GRCh37]
Chr12:12q12		 uncertain significance
NM_198578.4(LRRK2):c.4541G>A (p.Arg1514Gln) single nucleotide variant Autosomal dominant Parkinson disease 8 [RCV000032465]|LRRK2-related disorder [RCV003914890]|not provided [RCV001357806] Chr12:40313976 [GRCh38]
Chr12:40707778 [GRCh37]
Chr12:12q12		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_198578.4(LRRK2):c.457T>C (p.Leu153=) single nucleotide variant Autosomal dominant Parkinson disease 8 [RCV000032466]|not provided [RCV001610303]|not specified [RCV001529270] Chr12:40237989 [GRCh38]
Chr12:40631791 [GRCh37]
Chr12:12q12		 benign|conflicting interpretations of pathogenicity|uncertain significance
NM_198578.4(LRRK2):c.4624C>T (p.Pro1542Ser) single nucleotide variant Autosomal dominant Parkinson disease 8 [RCV000032467]|not provided [RCV000712240]|not specified [RCV001580002] Chr12:40314059 [GRCh38]
Chr12:40707861 [GRCh37]
Chr12:12q12		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_198578.4(LRRK2):c.4666C>A (p.Leu1556Ile) single nucleotide variant Autosomal dominant Parkinson disease 8 [RCV000032468] Chr12:40314101 [GRCh38]
Chr12:40707903 [GRCh37]
Chr12:12q12		 uncertain significance|not provided
NM_198578.4(LRRK2):c.4793T>A (p.Val1598Glu) single nucleotide variant Autosomal dominant Parkinson disease 8 [RCV000032469] Chr12:40315266 [GRCh38]
Chr12:40709068 [GRCh37]
Chr12:12q12		 uncertain significance|not provided
NM_198578.4(LRRK2):c.4838T>C (p.Val1613Ala) single nucleotide variant Autosomal dominant Parkinson disease 8 [RCV000032470] Chr12:40319998 [GRCh38]
Chr12:40713800 [GRCh37]
Chr12:12q12		 uncertain significance|not provided
NM_198578.4(LRRK2):c.4872C>A (p.Gly1624=) single nucleotide variant Autosomal dominant Parkinson disease 8 [RCV000032471]|not provided [RCV001675586]|not specified [RCV001529070] Chr12:40320032 [GRCh38]
Chr12:40713834 [GRCh37]
Chr12:12q12		 benign|conflicting interpretations of pathogenicity|uncertain significance
NM_198578.4(LRRK2):c.4883G>C (p.Arg1628Pro) single nucleotide variant Autosomal dominant Parkinson disease 8 [RCV000032472]|Early onset Alzheimer disease with behavioral disturbance [RCV000984891]|Klippel-Feil syndrome 1, autosomal dominant [RCV000984893]|Parkinson disease [RCV003993756]|Spinocerebellar atrophy [RCV000984892]|not provided [RCV001705623] Chr12:40320043 [GRCh38]
Chr12:40713845 [GRCh37]
Chr12:12q12		 pathogenic|likely pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|no classifications from unflagged records
NM_198578.4(LRRK2):c.4911A>G (p.Lys1637=) single nucleotide variant Autosomal dominant Parkinson disease 8 [RCV000032473]|not provided [RCV001659924]|not specified [RCV001528780] Chr12:40320071 [GRCh38]
Chr12:40713873 [GRCh37]
Chr12:12q12		 benign|conflicting interpretations of pathogenicity|uncertain significance
NM_198578.4(LRRK2):c.4937T>C (p.Met1646Thr) single nucleotide variant Autosomal dominant Parkinson disease 8 [RCV000032474]|LRRK2-related disorder [RCV003974864]|not provided [RCV000712241] Chr12:40320097 [GRCh38]
Chr12:40713899 [GRCh37]
Chr12:12q12		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_198578.4(LRRK2):c.4939T>A (p.Ser1647Thr) single nucleotide variant Autosomal dominant Parkinson disease 8 [RCV000032475]|not provided [RCV001762077]|not specified [RCV001579541] Chr12:40320099 [GRCh38]
Chr12:40713901 [GRCh37]
Chr12:12q12		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_198578.4(LRRK2):c.4959A>G (p.Leu1653=) single nucleotide variant Autosomal dominant Parkinson disease 8 [RCV000032476]|Inborn genetic diseases [RCV002336102] Chr12:40320119 [GRCh38]
Chr12:40713921 [GRCh37]
Chr12:12q12		 benign|likely benign|uncertain significance
NM_198578.4(LRRK2):c.5163A>G (p.Ser1721=) single nucleotide variant Autosomal dominant Parkinson disease 8 [RCV000032477]|Inborn genetic diseases [RCV002336103]|LRRK2-related disorder [RCV003914891]|not provided [RCV001355535] Chr12:40321181 [GRCh38]
Chr12:40714983 [GRCh37]
Chr12:12q12		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_198578.4(LRRK2):c.5173C>T (p.Arg1725Ter) single nucleotide variant Autosomal dominant Parkinson disease 8 [RCV000032478] Chr12:40322037 [GRCh38]
Chr12:40715839 [GRCh37]
Chr12:12q12		 uncertain significance|not provided
NM_198578.4(LRRK2):c.5174G>A (p.Arg1725Gln) single nucleotide variant Autosomal dominant Parkinson disease 8 [RCV000032479] Chr12:40322038 [GRCh38]
Chr12:40715840 [GRCh37]
Chr12:12q12		 uncertain significance|not provided
NM_198578.4(LRRK2):c.5183G>A (p.Arg1728His) single nucleotide variant Autosomal dominant Parkinson disease 8 [RCV000032480] Chr12:40322047 [GRCh38]
Chr12:40715849 [GRCh37]
Chr12:12q12		 uncertain significance|not provided
NM_198578.4(LRRK2):c.5183G>T (p.Arg1728Leu) single nucleotide variant Autosomal dominant Parkinson disease 8 [RCV000032481] Chr12:40322047 [GRCh38]
Chr12:40715849 [GRCh37]
Chr12:12q12		 uncertain significance|not provided
NM_198578.4(LRRK2):c.5385G>T (p.Leu1795Phe) single nucleotide variant Autosomal dominant Parkinson disease 8 [RCV000032482]|not provided [RCV001578132] Chr12:40322386 [GRCh38]
Chr12:40716188 [GRCh37]
Chr12:12q12		 uncertain significance
NM_198578.4(LRRK2):c.5457T>C (p.Gly1819=) single nucleotide variant Autosomal dominant Parkinson disease 8 [RCV000032483]|not provided [RCV001650853]|not specified [RCV001528640] Chr12:40322458 [GRCh38]
Chr12:40716260 [GRCh37]
Chr12:12q12		 benign|conflicting interpretations of pathogenicity|uncertain significance
NM_198578.4(LRRK2):c.5467C>A (p.Gln1823Lys) single nucleotide variant Autosomal dominant Parkinson disease 8 [RCV000032484] Chr12:40322468 [GRCh38]
Chr12:40716270 [GRCh37]
Chr12:12q12		 likely benign|uncertain significance
NM_198578.4(LRRK2):c.546A>G (p.Lys182=) single nucleotide variant Autosomal dominant Parkinson disease 8 [RCV000032485]|Inborn genetic diseases [RCV002345260] Chr12:40238078 [GRCh38]
Chr12:40631880 [GRCh37]
Chr12:12q12		 likely benign|uncertain significance|not provided
NM_198578.4(LRRK2):c.5605A>G (p.Met1869Val) single nucleotide variant Autosomal dominant Parkinson disease 8 [RCV000032486] Chr12:40323255 [GRCh38]
Chr12:40717057 [GRCh37]
Chr12:12q12		 pathogenic|not provided
NM_198578.4(LRRK2):c.5606T>C (p.Met1869Thr) single nucleotide variant Autosomal dominant Parkinson disease 8 [RCV000032487]|not provided [RCV003390711] Chr12:40323256 [GRCh38]
Chr12:40717058 [GRCh37]
Chr12:12q12		 benign|conflicting interpretations of pathogenicity|uncertain significance
NM_198578.4(LRRK2):c.5610G>T (p.Leu1870Phe) single nucleotide variant Autosomal dominant Parkinson disease 8 [RCV000032488] Chr12:40323260 [GRCh38]
Chr12:40717062 [GRCh37]
Chr12:12q12		 uncertain significance|not provided
NM_198578.4(LRRK2):c.5620G>T (p.Glu1874Ter) single nucleotide variant Autosomal dominant Parkinson disease 8 [RCV000032489] Chr12:40323270 [GRCh38]
Chr12:40717072 [GRCh37]
Chr12:12q12		 pathogenic|not provided
NM_198578.4(LRRK2):c.5822G>A (p.Arg1941His) single nucleotide variant Autosomal dominant Parkinson disease 8 [RCV000032490]|n