rs199567279 Rat Genome Database
Welcome
Sign In
Message Center
1 Messages
Go to Message Center
Watched Genes
Watched Ontology Terms
×
Save List to My RGD
Create Name:
Description:
You must be logged in to use this feature
Subscribe to Updates
Select categories you would like to watch. Updates to this gene will be sent to Sign In
Analyze List
×
Gene Annotator (Functional Annotation)
unavailable
Gene Annotator (Annotation Distribution)
unavailable
Variant Visualizer (Genomic Variants)
unavailable
InterViewer (Protein-Protein Interactions)
unavailable
Gviewer (Genome Viewer)
unavailable
Variant Visualizer (Damaging Variants)
unavailable
Gene Annotator (Annotation Comparison)
unavailable
OLGA (Gene List Generator)
unavailable
Excel (Download)
MOET (Multi-Ontology Enrichement)
unavailable
GOLF (Gene-Ortholog Location Finder)
unavailable
x
Send Message
x
Send us a Message
Your email
Message
Send
Submit Data
|
Help
|
Video Tutorials
|
News
|
Publications
|
Download
|
REST API
|
Citing RGD
|
Contact
Sign in with Google
Sign in with Google
Home
Search RGD
Grant Resources
Citing RGD
About Us
Contact Us
Data
Genes
Variants
Community Projects
QTLs
Strains
Markers
Genome Information
Ontologies
Cell Lines
References
Download
Submit Data
Analysis & Visualization
OntoMate (Literature Search)
JBrowse (Genome Browser)
Synteny Browser (VCMap)
Variant Visualizer
Multi-Ontology Enrichment (MOET)
Gene-Ortholog Location Finder (GOLF)
InterViewer (Protein-Protein Interactions)
PhenoMiner (Quatitative Phenotypes)
Gene Annotator
OLGA (Gene List Generator)
AllianceMine
GViewer (Genome Viewer)
Diseases
Aging & Age-Related Disease
Cancer & Neoplastic Disease
Cardiovascular Disease
Coronavirus Disease
Developmental Disease
Diabetes
Hematologic Disease
Immune & Inflammatory Disease
Infectious Disease
Liver Disease
Neurological Disease
Obesity & Metabolic Syndrome
Renal Disease
Respiratory Disease
Sensory Organ Disease
Phenotypes & Models
Find Models
Genetic Models
Autism Models
Rat PhenoMiner (Quantitative Phenotypes)
Chinchilla PhenoMiner
Expected Ranges (Quantitative Phenotype)
PhenoMiner Term Comparison
Hybrid Rat Diversity Panel
Phenotypes
Phenotypes in Other Animal Models
Animal Husbandry
Strain Medical Records
Phylogenetics
Strain Availability
Calendar
Rats 101
Submissions
Photo Archive
Pathways
Community
Rat Community Forum
Directory of Rat Laboratories
Video Tutorials
News
RGD Publications
RGD Presentations Archive
Nomenclature Guidelines
Resource Links
Laboratory Resources
Employment Resources
Advanced Search (OLGA)
Summary
Variant: rs199567279 - Homo sapiens
RGD ID:
151731134
RS ID:
rs199567279
ClinVar ID:
CV1457908
Genic Status:
GENIC
Type:
SNV
(SO:0001483)
Associated Genes:
LOC105369736
LRRK2
Reference Nucleotide:
T
Variant Nucleotide:
C
Position
Assembly
Chr
Position
GRCh37
12
40,753,248
GRCh38
12
40,359,446
JBrowse:
View Region in Genome Browser (JBrowse)
Model
Annotation
Click to see Annotation Detail View
ClinVar Data
HGVS Name(s)
Last Evaluated
Molecular Consequence
Clinical Significance
Trait Synonyms
NM_198578.4:c.7028+2T>C
NG_011709.1:g.139436T>C
NC_000012.12:g.40359446T>C
NC_000012.11:g.40753248T>C
NG_011709.2:g.139451T>C
More...
11/28/2022
splice donor variant
uncertain significance
LRRK2-Related Parkinson Disease; Parkinson disease 8, susceptibility to
Imported Disease Annotations - ClinVar
10
20
30
40
100
All Rows
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
CV1457908
Human
Parkinson's disease 8
IAGP
8554872
ClinVar Annotator: match by term: Parkinson disease 8 and autosomal dominant
ClinVar
PMID:16199547
and
PMID:28492532
10
20
30
40
100
All Rows
Disease Annotations
Click to see Annotation Detail View
10
20
30
40
100
All Rows
Parkinson's disease 8
(IAGP)
10
20
30
40
100
All Rows
Variant Details
Variant Transcripts
Gene Symbol:
LRRK2
Accession:
XM_047428279
Location:
INTRON
Gene Symbol:
LRRK2
Accession:
XM_047428277
Location:
INTRON
Gene Symbol:
LRRK2
Accession:
XM_047428278
Location:
INTRON
Gene Symbol:
LRRK2
Accession:
XM_005268629
Location:
INTRON
Gene Symbol:
LRRK2
Accession:
XM_017018787
Location:
INTRON
Gene Symbol:
LRRK2
Accession:
XM_011537877
Location:
INTRON
Gene Symbol:
LRRK2
Accession:
XM_024448833
Location:
INTRON
Gene Symbol:
LRRK2
Accession:
XM_011537882
Location:
INTRON
Gene Symbol:
LRRK2
Accession:
XM_017018786
Location:
INTRON
Gene Symbol:
LRRK2
Accession:
NM_198578
Location:
INTRON
Gene Symbol:
LRRK2
Accession:
XM_011537881
Location:
INTRON
Gene Symbol:
LOC105369736
Accession:
XR_944868
Location:
INTRON;NON-CODING
Gene Symbol:
LOC105369736
Accession:
XR_944867
Location:
INTRON;NON-CODING
Gene Symbol:
LOC105369736
Accession:
XR_944866
Location:
INTRON;NON-CODING
Gene Symbol:
LRRK2
Accession:
XR_007063041
Location:
INTRON;NON-CODING
Gene Symbol:
LOC105369736
Accession:
XR_007063562
Location:
INTRON;NON-CODING
Gene Symbol:
LOC105369736
Accession:
XR_944869
Location:
INTRON;NON-CODING
.
Variant Samples
10
20
30
40
100
All Rows
ClinVar GRCh37
ClinVar GRCh38
10
20
30
40
100
All Rows
Additional References at PubMed
10
20
30
40
100
All Rows
PMID:
16199547
PMID:
28492532
10
20
30
40
100
All Rows
Additional Information
External Database Links
3
5
10
20
40
100
All Rows
Database
Acc Id
Source(s)
ClinVar
RCV001967123
CLINVAR
dbSNP (RS)
rs199567279
CLINVAR
MedGen
C1846862
CLINVAR
NCBI Gene
LRRK2
CLINVAR
OMIM
607060
CLINVAR
609007
CLINVAR
3
5
10
20
40
100
All Rows