chr12:40734202:G>A Detail (hg19) (LRRK2)

Information

Genome

Assembly Position
hg19 chr12:40,734,202-40,734,202
hg38 chr12:40,340,400-40,340,400 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_198578.3:c.6055G>A NP_940980.3:p.Gly2019Ser
Ensemble ENST00000298910.12:c.6055G>A ENST00000298910.12:p.Gly2019Ser
ENST00000680790.1:c.5800G>A ENST00000680790.1:p.Gly1934Ser
Summary

MGeND

Clinical significance Pathogenic
Variant entry 1
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:<0.001
ToMMo:[No Data.]
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:<0.001

Prediction

ClinVar

Clinical Significance Pathogenic Likely pathogenic; risk factor
Review star
Show details
Links
Type Database ID Link
Gene MIM 609007 OMIM
HGNC 18618 HGNC
Ensembl ENSG00000188906 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv45580587 TogoVar
COSMIC
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
Pathogenic other germline MGS000082
(TMGS000165) 		Kenjiro Kosaki
Kenjiro Kosaki		 Keio University
Mutation View
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic Likely pathogenic 2024-01-26 criteria provided, multiple submitters, no conflicts Autosomal dominant Parkinson disease 8 germline unknown Detail
Pathogenic 2022-11-01 criteria provided, multiple submitters, no conflicts not provided germline unknown Detail
Pathogenic 2022-07-19 criteria provided, single submitter Inborn genetic diseases germline Detail
risk factor 2017-12-29 criteria provided, single submitter Young-onset Parkinson disease germline Detail
Pathogenic 2021-05-03 criteria provided, single submitter Parkinson disease, late-onset germline Detail
Pathogenic 2024-01-02 criteria provided, single submitter LRRK2-related disorder germline Detail
Pathogenic 2023-03-30 criteria provided, single submitter Parkinson disease germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.440 PARKINSON DISEASE 8 (disorder) NA CLINVAR Detail
<0.001 Parkinson Disease, Familial, Type 1 We demonstrated that wild-type (WT) LRRK2 expression caused mitochondrial fragme... BeFree 22228096 Detail
0.009 essential tremor The LRRK2 I2012T, G2019S and I2020T mutations are not common in patients with es... BeFree 16939701 Detail
<0.001 Unspecified visual loss Previously, we showed that dopaminergic expression of the human LRRK2-G2019S tra... BeFree 24718285 Detail
<0.001 Sleep disturbances Neuropsychiatric, dysautonomic and sleep disturbances occur as frequently in pat... BeFree 25330404 Detail
0.436 Parkinson disease Nonmotor symptoms in LRRK2 G2019S associated Parkinson's disease. BeFree 25330404 Detail
<0.001 Parkinsonian Disorders Although effective deep brain stimulation of the subthalamic nucleus (STN-DBS) i... BeFree 23938256 Detail
<0.001 Hypokinesia Eight to nine-month-old (G2019S) LRRK2 transgenic mice exhibited the symptom of ... BeFree 24830390 Detail
0.436 Parkinson disease While a male preponderance of Parkinson disease (PD) has been consistently repor... BeFree 21511009 Detail
<0.001 Malignant neoplasm of breast This multinational study from 5 centers demonstrates that LRRK2 G2019S mutation ... BeFree 25401981 Detail
0.159 Parkinsonian Disorders The study provides support for a common ancestor in Norwegian families with LRRK... BeFree 20621541 Detail
0.436 Parkinson disease Parkinson disease phenotype in Ashkenazi Jews with and without LRRK2 G2019S muta... BeFree 24243757 Detail
0.001 neuroblastoma However, the expression of the G2019S LRRK2 mutation in both fibroblast and neur... BeFree 22736029 Detail
<0.001 Sleep Disorders Neuropsychiatric, dysautonomic and sleep disturbances occur as frequently in pat... BeFree 25330404 Detail
<0.001 breast carcinoma This multinational study from 5 centers demonstrates that LRRK2 G2019S mutation ... BeFree 25401981 Detail
0.436 Parkinson disease Alteration G2019S in the leucine-rich repeat kinase 2 gene (LRRK2) has been iden... BeFree 16781064 Detail
0.159 Parkinsonian Disorders In this brain bank-based series, LRRK2 G2019S mutation occurred in patients with... BeFree 18353371 Detail
<0.001 Parkinson disease, late-onset Wild-type LRRK2 (LRRK2(wt)) expression induces expression of vascular cell adhes... BeFree 24788225 Detail
0.436 Parkinson disease Web-based genome-wide association study identifies two novel loci and a substant... GWASCAT 21738487 Detail
0.003 Parkinson disease, late-onset Wild-type LRRK2 (LRRK2(wt)) expression induces expression of vascular cell adhes... BeFree 24788225 Detail
0.216 Parkinson disease Patients with PD were genotyped for the LRRK2 G2019S mutation and at least 7 fou... BeFree 26062626 Detail
0.004 Autosomal Dominant Parkinsonism They had significantly more symmetric signs and less rigidity than ADP caused by... BeFree 17568014 Detail
0.436 Parkinson disease LRRK2 G2019S in families with Parkinson disease who originated from Europe and t... BeFree 16960813 Detail
0.018 Neurodegenerative Disorders Parkinson disease is a progressive neurodegenerative disease for which leucine-r... BeFree 24355527 Detail
0.001 Idiopathic disease The LRRK2 G2019S mutation is the commonest genetic cause of Parkinson's disease ... BeFree 16614029 Detail
0.002 Presenile dementia Larger longitudinal follow-up of LRRK2 G2019S mutation carriers is required to a... BeFree 22194196 Detail
0.159 Parkinsonian Disorders Hyposmia in G2019S LRRK2-related parkinsonism: clinical and pathologic data. BeFree 18809839 Detail
0.436 Parkinson disease The LRRK2 G2019S mutation in Ashkenazi Jews with Parkinson disease: is there a g... BeFree 17938369 Detail
0.003 Parkinson Disease, Familial, Type 1 Collectively, our study further elucidates the pathological effects of the G2019... BeFree 25731749 Detail
0.001 Central neuroblastoma However, the expression of the G2019S LRRK2 mutation in both fibroblast and neur... BeFree 22736029 Detail
0.436 Parkinson disease That the most prevalent mutation, G2019S, leads to increased kinase activity has... BeFree 26407721 Detail
<0.001 GRN-related frontotemporal dementia Screening for the LRRK2 G2019S and codon-1441 mutations in a pathological series... BeFree 18353371 Detail
0.436 Parkinson disease Adenoviral-mediated expression of G2019S LRRK2 induces striatal pathology in a k... BeFree 25731749 Detail
0.002 Impaired cognition Involvement of the cerebral cortex in Parkinson disease linked with G2019S LRRK2... BeFree 20232069 Detail
0.159 Parkinsonian Disorders In summary, our study demonstrates that LRRK2 G2019S accounts for parkinsonism i... BeFree 15726496 Detail
0.436 Parkinson disease The frequency and penetrance of the LRRK2 G2019S mutation varies considerably in... BeFree 21954089 Detail
0.159 Parkinsonian Disorders Comparative study of Parkinson's disease and leucine-rich repeat kinase 2 p.G201... BeFree 24355527 Detail
0.436 Parkinson disease Involvement of the cerebral cortex in Parkinson disease linked with G2019S LRRK2... BeFree 20232069 Detail
0.436 Parkinson disease There is clear preclinical impairment of mitochondrial function in NM-LRRK2(G201... BeFree 26253449 Detail
0.007 dementia Larger longitudinal follow-up of LRRK2 G2019S mutation carriers is required to a... BeFree 22194196 Detail
0.436 Parkinson disease Parkinson disease is a progressive neurodegenerative disease for which leucine-r... BeFree 24355527 Detail
<0.001 Mental Depression (G2019S) LRRK2 causes early-phase dysfunction of SNpc dopaminergic neurons and i... BeFree 24830390 Detail
0.436 Parkinson disease Asymptomatic LRRK2 G2019S mutation carriers show a reorganization of corticostri... BeFree 25540317 Detail
0.003 Parkinson disease, late-onset Enhanced kinase activity of G2019S LRRK2 is a suspected mechanism for carriers t... BeFree 25174649 Detail
0.436 Parkinson disease Motor phenotype of LRRK2 G2019S carriers in early-onset Parkinson disease. BeFree 20008657 Detail
0.436 Parkinson disease Subsequently, 42 family members of the 13 probands were examined; 22 have an LRR... BeFree 15726496 Detail
0.436 Parkinson disease We evaluated the neurological and neuropsychological profiles and olfaction as p... BeFree 18718805 Detail
0.436 Parkinson disease Higher frequency of certain cancers in LRRK2 G2019S mutation carriers with Parki... BeFree 25401981 Detail
<0.001 Frontotemporal Lobar Degeneration Screening for the LRRK2 G2019S and codon-1441 mutations in a pathological series... BeFree 18353371 Detail
0.436 Parkinson disease Mitochondrial impairment in patients with Parkinson disease with the G2019S muta... BeFree 21115957 Detail
0.436 Parkinson disease Although the changes Gly2019Ser and Gly2385Arg of LRRK2 are associated with PD i... BeFree 24729340 Detail
0.436 Parkinson disease Identification of candidate genes for Parkinson's disease through blood transcri... BeFree 25475535 Detail
0.021 Alzheimer's disease Investigation of the leucine-rich repeat kinase 2 (LRRK2) gene in late-onset Alz... BeFree 17846883 Detail
0.436 Parkinson disease The leucine-rich repeat kinase 2 (LRRK2) G2019S mutation is recognized as the mo... BeFree 19172321 Detail
<0.001 Anosmia Neuropsychiatric, dysautonomic and sleep disturbances occur as frequently in pat... BeFree 25330404 Detail
0.436 Parkinson disease The underlying disease mechanisms of LRRK2 G2019S-associated parkinsonism are si... BeFree 16966501 Detail
0.436 Parkinson disease Motor progression of Parkinson's disease with the leucine-rich repeat kinase 2 G... BeFree 24903616 Detail
0.001 Neurofibrillary degeneration (morphologic abnormality) We have identified Family SK where Lrrk2 G2019S segregates with slowly progressi... BeFree 17060589 Detail
0.002 Tremor We identified a LRRK2 mutation leading to the G2019S amino acid substitution in ... BeFree 17151837 Detail
0.002 Tremor Tremor was the predominant symptom in LRRK2 Gly2019Ser carriers (92% [homozygote... BeFree 18539535 Detail
0.018 Neurodegenerative Disorders LRRK2 G2019S is the single most common pathogenic mutation linked to neurodegene... BeFree 16250030 Detail
<0.001 depressive disorder (G2019S) LRRK2 causes early-phase dysfunction of SNpc dopaminergic neurons and i... BeFree 24830390 Detail
0.436 Parkinson disease Neuropsychological performance in LRRK2 G2019S carriers with Parkinson's disease... BeFree 25434972 Detail
0.436 Parkinson disease About one-third of patients with sporadic Parkinson disease (PD) and more than 4... BeFree 25347348 Detail
<0.001 Frontotemporal Lobar Degeneration Lrrk2 G2019S substitution in frontotemporal lobar degeneration with ubiquitin-im... BeFree 17151837 Detail
0.436 Parkinson disease Risk of PD in relatives predicted to carry an LRRK2 G2019S mutation was 0.26 (95... BeFree 26062626 Detail
0.216 Parkinson disease About one-third of patients with sporadic Parkinson disease (PD) and more than 4... BeFree 25347348 Detail
<0.001 Dyssomnias Neuropsychiatric, dysautonomic and sleep disturbances occur as frequently in pat... BeFree 25330404 Detail
0.440 PARKINSON DISEASE 8 (disorder) Systematic review and UK-based study of PARK2 (parkin), PINK1, PARK7 (DJ-1) and ... UNIPROT 22956510 Detail
<0.001 Muscular stiffness More LRRK2 G2019S carriers reported muscle stiffness (rigidity, p = 0.007) and b... BeFree 19458969 Detail
<0.001 Parkinsonian Disorders Although effective deep brain stimulation of the subthalamic nucleus (STN-DBS) i... BeFree 23938256 Detail
0.436 Parkinson disease A major risk-factor for developing Parkinson's disease (PD) is genetic variabili... BeFree 25000966 Detail
<0.001 Parkinsonian Disorders Although effective deep brain stimulation of the subthalamic nucleus (STN-DBS) i... BeFree 23938256 Detail
0.436 Parkinson disease The LRRK2 G2019S mutation is associated with Parkinson disease and concomitant n... BeFree 22323743 Detail
<0.001 GRN-related frontotemporal dementia Lrrk2 G2019S substitution in frontotemporal lobar degeneration with ubiquitin-im... BeFree 17151837 Detail
0.159 Parkinsonian Disorders We analysed the Leucine-Rich Repeat Kinase 2 (LRRK2) gene for the G2019S mutatio... BeFree 16750929 Detail
<0.001 acute myocardial infarction Five LRRK2 G2019S carriers were identified, of whom 4 had Parkinson disease (cli... BeFree 16966501 Detail
0.436 Parkinson disease Interestingly, LRRK2 G2019S carriers (n = 36), most of whom had Parkinson's dise... BeFree 26117366 Detail
0.436 Parkinson disease Olfaction and imaging biomarkers in premotor LRRK2 G2019S-associated Parkinson d... BeFree 23325906 Detail
0.159 Parkinsonian Disorders The Lrrk2 kinase domain G2019S substitution is the most common genetic basis of ... BeFree 16437559 Detail
<0.001 Bradykinesia More LRRK2 G2019S carriers reported muscle stiffness (rigidity, p = 0.007) and b... BeFree 19458969 Detail
0.002 Impaired cognition PD in AJ LRRK2 G2019S mutation carriers is similar to idiopathic PD but is chara... BeFree 24243757 Detail
0.159 Parkinsonian Disorders Glucocerebrosidase mutations are not found in association with LRRK2 G2019S in s... BeFree 16781064 Detail
0.002 Dyskinetic syndrome All patients carrying the LRRK2 G2019S exhibited typical levodopa-responsive par... BeFree 17388990 Detail
0.436 Parkinson disease The leucine-rich repeat kinase 2 mutation G2019S in the kinase-domain is the mos... BeFree 25107341 Detail
<0.001 Malignant neoplasm of skin The LRRK2 G2019S mutation is associated with Parkinson disease and concomitant n... BeFree 22323743 Detail
0.159 Parkinsonian Disorders A series of 106 patients with isolated or familial Parkinsonism underwent clinic... BeFree 20933457 Detail
<0.001 Muscle Rigidity More LRRK2 G2019S carriers reported muscle stiffness (rigidity, p = 0.007) and b... BeFree 19458969 Detail
0.002 Dyskinetic syndrome Dyskinesias in patients with Parkinson's disease: effect of the leucine-rich rep... BeFree 22703868 Detail
0.436 Parkinson disease LRRK2 G2019S mutations are associated with an increased cancer risk in Parkinson... BeFree 20818610 Detail
<0.001 Excessive daytime somnolence Like in IPD, disturbances such as hyposmia, depression, constipation and excessi... BeFree 25330404 Detail
0.159 Parkinsonian Disorders Multiple mutations in the LRRK2 gene are associated with parkinsonian disorders,... BeFree 17230458 Detail
0.021 Alzheimer's disease We screened the most common LRRK2 mutation (p.G2019S) in a series of 180 consecu... BeFree 19822953 Detail
0.159 Parkinsonian Disorders Twelve- to sixteen-month-old (G2019S) LRRK2 transgenic mice prepared by us displ... BeFree 22539006 Detail
0.159 Parkinsonian Disorders The underlying disease mechanisms of LRRK2 G2019S-associated parkinsonism are si... BeFree 16966501 Detail
0.159 Parkinsonian Disorders We have identified Family SK where Lrrk2 G2019S segregates with slowly progressi... BeFree 17060589 Detail
<0.001 Muscle Rigidity More LRRK2 G2019S carriers reported muscle stiffness (rigidity, p = 0.007) and b... BeFree 19458969 Detail
0.436 Parkinson disease The leucine rich repeat kinase 2 (LRRK2) G2019S substitution mutation. Associati... BeFree 19412725 Detail
<0.001 Muscular stiffness More LRRK2 G2019S carriers reported muscle stiffness (rigidity, p = 0.007) and b... BeFree 19458969 Detail
0.436 Parkinson disease Evaluation of LRRK2 G2019S penetrance: relevance for genetic counseling in Parki... BeFree 17215492 Detail
0.002 Motor symptoms Like in IPD, disturbances such as hyposmia, depression, constipation and excessi... BeFree 25330404 Detail
0.436 Parkinson disease Identification and haplotype analysis of LRRK2 G2019S in Japanese patients with ... BeFree 16728648 Detail
<0.001 Muscle Rigidity They had significantly more symmetric signs and less rigidity than ADP caused by... BeFree 17568014 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_198578.4(LRRK2):c.6055G>A (p.Gly2019Ser) AND Autosomal dominant Parkinson disease 8 ClinVar Detail
NM_198578.4(LRRK2):c.6055G>A (p.Gly2019Ser) AND not provided ClinVar Detail
NM_198578.4(LRRK2):c.6055G>A (p.Gly2019Ser) AND Inborn genetic diseases ClinVar Detail
NM_198578.4(LRRK2):c.6055G>A (p.Gly2019Ser) AND Young-onset Parkinson disease ClinVar Detail
NM_198578.4(LRRK2):c.6055G>A (p.Gly2019Ser) AND Parkinson disease, late-onset ClinVar Detail
NM_198578.4(LRRK2):c.6055G>A (p.Gly2019Ser) AND LRRK2-related disorder ClinVar Detail
NM_198578.4(LRRK2):c.6055G>A (p.Gly2019Ser) AND Parkinson disease ClinVar Detail
NA DisGeNET Detail
We demonstrated that wild-type (WT) LRRK2 expression caused mitochondrial fragmentation along with i... DisGeNET Detail
The LRRK2 I2012T, G2019S and I2020T mutations are not common in patients with essential tremor. DisGeNET Detail
Previously, we showed that dopaminergic expression of the human LRRK2-G2019S transgene in flies led ... DisGeNET Detail
Neuropsychiatric, dysautonomic and sleep disturbances occur as frequently in patients with LRRK2-G20... DisGeNET Detail
Nonmotor symptoms in LRRK2 G2019S associated Parkinson's disease. DisGeNET Detail
Although effective deep brain stimulation of the subthalamic nucleus (STN-DBS) is reported in G2019S... DisGeNET Detail
Eight to nine-month-old (G2019S) LRRK2 transgenic mice exhibited the symptom of hypoactivity in the ... DisGeNET Detail
While a male preponderance of Parkinson disease (PD) has been consistently reported, this gender dif... DisGeNET Detail
This multinational study from 5 centers demonstrates that LRRK2 G2019S mutation carriers have an ove... DisGeNET Detail
The study provides support for a common ancestor in Norwegian families with LRRK2 p.G2019S parkinson... DisGeNET Detail
Parkinson disease phenotype in Ashkenazi Jews with and without LRRK2 G2019S mutations. DisGeNET Detail
However, the expression of the G2019S LRRK2 mutation in both fibroblast and neuroblastoma cells was ... DisGeNET Detail
Neuropsychiatric, dysautonomic and sleep disturbances occur as frequently in patients with LRRK2-G20... DisGeNET Detail
This multinational study from 5 centers demonstrates that LRRK2 G2019S mutation carriers have an ove... DisGeNET Detail
Alteration G2019S in the leucine-rich repeat kinase 2 gene (LRRK2) has been identified in several po... DisGeNET Detail
In this brain bank-based series, LRRK2 G2019S mutation occurred in patients with parkinsonism associ... DisGeNET Detail
Wild-type LRRK2 (LRRK2(wt)) expression induces expression of vascular cell adhesion molecule 1 (VCAM... DisGeNET Detail
Web-based genome-wide association study identifies two novel loci and a substantial genetic componen... DisGeNET Detail
Wild-type LRRK2 (LRRK2(wt)) expression induces expression of vascular cell adhesion molecule 1 (VCAM... DisGeNET Detail
Patients with PD were genotyped for the LRRK2 G2019S mutation and at least 7 founder GBA mutations.G... DisGeNET Detail
They had significantly more symmetric signs and less rigidity than ADP caused by the G2019S mutation... DisGeNET Detail
LRRK2 G2019S in families with Parkinson disease who originated from Europe and the Middle East: evid... DisGeNET Detail
Parkinson disease is a progressive neurodegenerative disease for which leucine-rich repeat kinase 2 ... DisGeNET Detail
The LRRK2 G2019S mutation is the commonest genetic cause of Parkinson's disease (PD) identified to d... DisGeNET Detail
Larger longitudinal follow-up of LRRK2 G2019S mutation carriers is required to assess for risk facto... DisGeNET Detail
Hyposmia in G2019S LRRK2-related parkinsonism: clinical and pathologic data. DisGeNET Detail
The LRRK2 G2019S mutation in Ashkenazi Jews with Parkinson disease: is there a gender effect? DisGeNET Detail
Collectively, our study further elucidates the pathological effects of the G2019S mutation in the ma... DisGeNET Detail
However, the expression of the G2019S LRRK2 mutation in both fibroblast and neuroblastoma cells was ... DisGeNET Detail
That the most prevalent mutation, G2019S, leads to increased kinase activity has led to a concerted ... DisGeNET Detail
Screening for the LRRK2 G2019S and codon-1441 mutations in a pathological series of parkinsonian syn... DisGeNET Detail
Adenoviral-mediated expression of G2019S LRRK2 induces striatal pathology in a kinase-dependent mann... DisGeNET Detail
Involvement of the cerebral cortex in Parkinson disease linked with G2019S LRRK2 mutation without co... DisGeNET Detail
In summary, our study demonstrates that LRRK2 G2019S accounts for parkinsonism in several families w... DisGeNET Detail
The frequency and penetrance of the LRRK2 G2019S mutation varies considerably in different Parkinson... DisGeNET Detail
Comparative study of Parkinson's disease and leucine-rich repeat kinase 2 p.G2019S parkinsonism. DisGeNET Detail
Involvement of the cerebral cortex in Parkinson disease linked with G2019S LRRK2 mutation without co... DisGeNET Detail
There is clear preclinical impairment of mitochondrial function in NM-LRRK2(G2019S) that is distinct... DisGeNET Detail
Larger longitudinal follow-up of LRRK2 G2019S mutation carriers is required to assess for risk facto... DisGeNET Detail
Parkinson disease is a progressive neurodegenerative disease for which leucine-rich repeat kinase 2 ... DisGeNET Detail
(G2019S) LRRK2 causes early-phase dysfunction of SNpc dopaminergic neurons and impairment of cortico... DisGeNET Detail
Asymptomatic LRRK2 G2019S mutation carriers show a reorganization of corticostriatal circuits that m... DisGeNET Detail
Enhanced kinase activity of G2019S LRRK2 is a suspected mechanism for carriers to develop PD but pat... DisGeNET Detail
Motor phenotype of LRRK2 G2019S carriers in early-onset Parkinson disease. DisGeNET Detail
Subsequently, 42 family members of the 13 probands were examined; 22 have an LRRK2 G2019S substituti... DisGeNET Detail
We evaluated the neurological and neuropsychological profiles and olfaction as presymptomatic marker... DisGeNET Detail
Higher frequency of certain cancers in LRRK2 G2019S mutation carriers with Parkinson disease: a pool... DisGeNET Detail
Screening for the LRRK2 G2019S and codon-1441 mutations in a pathological series of parkinsonian syn... DisGeNET Detail
Mitochondrial impairment in patients with Parkinson disease with the G2019S mutation in LRRK2. DisGeNET Detail
Although the changes Gly2019Ser and Gly2385Arg of LRRK2 are associated with PD in different populati... DisGeNET Detail
Identification of candidate genes for Parkinson's disease through blood transcriptome analysis in LR... DisGeNET Detail
Investigation of the leucine-rich repeat kinase 2 (LRRK2) gene in late-onset Alzheimer's disease (AD... DisGeNET Detail
The leucine-rich repeat kinase 2 (LRRK2) G2019S mutation is recognized as the most common cause of f... DisGeNET Detail
Neuropsychiatric, dysautonomic and sleep disturbances occur as frequently in patients with LRRK2-G20... DisGeNET Detail
The underlying disease mechanisms of LRRK2 G2019S-associated parkinsonism are similar to those of ty... DisGeNET Detail
Motor progression of Parkinson's disease with the leucine-rich repeat kinase 2 G2019S mutation. DisGeNET Detail
We have identified Family SK where Lrrk2 G2019S segregates with slowly progressive parkinsonism and ... DisGeNET Detail
We identified a LRRK2 mutation leading to the G2019S amino acid substitution in a 79-year-old woman ... DisGeNET Detail
Tremor was the predominant symptom in LRRK2 Gly2019Ser carriers (92% [homozygotes] vs 75% [heterozyg... DisGeNET Detail
LRRK2 G2019S is the single most common pathogenic mutation linked to neurodegenerative disease to da... DisGeNET Detail
(G2019S) LRRK2 causes early-phase dysfunction of SNpc dopaminergic neurons and impairment of cortico... DisGeNET Detail
Neuropsychological performance in LRRK2 G2019S carriers with Parkinson's disease. DisGeNET Detail
About one-third of patients with sporadic Parkinson disease (PD) and more than 40% of patients with ... DisGeNET Detail
Lrrk2 G2019S substitution in frontotemporal lobar degeneration with ubiquitin-immunoreactive neurona... DisGeNET Detail
Risk of PD in relatives predicted to carry an LRRK2 G2019S mutation was 0.26 (95% confidence interva... DisGeNET Detail
About one-third of patients with sporadic Parkinson disease (PD) and more than 40% of patients with ... DisGeNET Detail
Neuropsychiatric, dysautonomic and sleep disturbances occur as frequently in patients with LRRK2-G20... DisGeNET Detail
Systematic review and UK-based study of PARK2 (parkin), PINK1, PARK7 (DJ-1) and LRRK2 in early-onset... DisGeNET Detail
More LRRK2 G2019S carriers reported muscle stiffness (rigidity, p = 0.007) and balance disturbances ... DisGeNET Detail
Although effective deep brain stimulation of the subthalamic nucleus (STN-DBS) is reported in G2019S... DisGeNET Detail
A major risk-factor for developing Parkinson's disease (PD) is genetic variability in leucine-rich r... DisGeNET Detail
Although effective deep brain stimulation of the subthalamic nucleus (STN-DBS) is reported in G2019S... DisGeNET Detail
The LRRK2 G2019S mutation is associated with Parkinson disease and concomitant non-skin cancers. DisGeNET Detail
Lrrk2 G2019S substitution in frontotemporal lobar degeneration with ubiquitin-immunoreactive neurona... DisGeNET Detail
We analysed the Leucine-Rich Repeat Kinase 2 (LRRK2) gene for the G2019S mutation in 1245 consecutiv... DisGeNET Detail
Five LRRK2 G2019S carriers were identified, of whom 4 had Parkinson disease (clinically and patholog... DisGeNET Detail
Interestingly, LRRK2 G2019S carriers (n = 36), most of whom had Parkinson's disease, had higher enzy... DisGeNET Detail
Olfaction and imaging biomarkers in premotor LRRK2 G2019S-associated Parkinson disease. DisGeNET Detail
The Lrrk2 kinase domain G2019S substitution is the most common genetic basis of familial and sporadi... DisGeNET Detail
More LRRK2 G2019S carriers reported muscle stiffness (rigidity, p = 0.007) and balance disturbances ... DisGeNET Detail
PD in AJ LRRK2 G2019S mutation carriers is similar to idiopathic PD but is characterized by more fre... DisGeNET Detail
Glucocerebrosidase mutations are not found in association with LRRK2 G2019S in subjects with parkins... DisGeNET Detail
All patients carrying the LRRK2 G2019S exhibited typical levodopa-responsive parkinsonism, and sever... DisGeNET Detail
The leucine-rich repeat kinase 2 mutation G2019S in the kinase-domain is the most common genetic cau... DisGeNET Detail
The LRRK2 G2019S mutation is associated with Parkinson disease and concomitant non-skin cancers. DisGeNET Detail
A series of 106 patients with isolated or familial Parkinsonism underwent clinical evaluation and ge... DisGeNET Detail
More LRRK2 G2019S carriers reported muscle stiffness (rigidity, p = 0.007) and balance disturbances ... DisGeNET Detail
Dyskinesias in patients with Parkinson's disease: effect of the leucine-rich repeat kinase 2 (LRRK2)... DisGeNET Detail
LRRK2 G2019S mutations are associated with an increased cancer risk in Parkinson disease. DisGeNET Detail
Like in IPD, disturbances such as hyposmia, depression, constipation and excessive daytime sleepines... DisGeNET Detail
Multiple mutations in the LRRK2 gene are associated with parkinsonian disorders, and the most common... DisGeNET Detail
We screened the most common LRRK2 mutation (p.G2019S) in a series of 180 consecutive patients clinic... DisGeNET Detail
Twelve- to sixteen-month-old (G2019S) LRRK2 transgenic mice prepared by us displayed progressive deg... DisGeNET Detail
The underlying disease mechanisms of LRRK2 G2019S-associated parkinsonism are similar to those of ty... DisGeNET Detail
We have identified Family SK where Lrrk2 G2019S segregates with slowly progressive parkinsonism and ... DisGeNET Detail
More LRRK2 G2019S carriers reported muscle stiffness (rigidity, p = 0.007) and balance disturbances ... DisGeNET Detail
The leucine rich repeat kinase 2 (LRRK2) G2019S substitution mutation. Association with Parkinson di... DisGeNET Detail
More LRRK2 G2019S carriers reported muscle stiffness (rigidity, p = 0.007) and balance disturbances ... DisGeNET Detail
Evaluation of LRRK2 G2019S penetrance: relevance for genetic counseling in Parkinson disease. DisGeNET Detail
Like in IPD, disturbances such as hyposmia, depression, constipation and excessive daytime sleepines... DisGeNET Detail
Identification and haplotype analysis of LRRK2 G2019S in Japanese patients with Parkinson disease. DisGeNET Detail
They had significantly more symmetric signs and less rigidity than ADP caused by the G2019S mutation... DisGeNET Detail

Overlapped Transcript Coordinates

Gene Transcript ID Exon Number Chromosome Start Stop Type Amino Mutation Transcript Position Links

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs34637584 dbSNP
Genome
hg19
Position
chr12:40,734,202-40,734,202
Variant Type
snv
Reference Allele
G
Alternative Allele
A
Filtering Status (HGVD)
PASS
# of samples (HGVD)
1210
Mean of sample read depth (HGVD)
62.80
Standard deviation of sample read depth (HGVD)
36.73
Number of reference allele (HGVD)
2419
Number of alternative allele (HGVD)
1
Allele Frequency (HGVD)
4.1322314049586776E-4
Gene Symbol (HGVD)
LRRK2
East Asian Chromosome Counts (ExAC)
8654
East Asian Allele Counts (ExAC)
0
East Asian Heterozygous Counts (ExAC)
0
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
0.0
Chromosome Counts in All Race (ExAC)
121350
Allele Counts in All Race (ExAC)
47
Heterozygous Counts in All Race (ExAC)
47
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
3.873094355170993E-4
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