RGD:15199846 Rat Genome Database

Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
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)
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
Find Models   new 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
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources

Variant: RGD:15199846 -  Homo sapiens

RGD ID: 15199846
RS ID: rs898586557
ClinVar ID: CV760010
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LRRK2  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 12 40,646,707
GRCh38 12 40,252,905
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_198578.4:c.1182-5G>A
NG_011709.1:g.32895G>A
NC_000012.12:g.40252905G>A
NC_000012.11:g.40646707G>A
More... 		10/29/2018 intron variant likely benign LRRK2-Related Parkinson Disease; Parkinson disease 8, susceptibility to
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:LRRK2
Accession:XM_024448833
Location:5UTRS;INTRON

Gene Symbol:LRRK2
Accession:NM_198578
Location:INTRON

Gene Symbol:LRRK2
Accession:XM_047428279
Location:INTRON

Gene Symbol:LRRK2
Accession:XM_047428278
Location:INTRON

Gene Symbol:LRRK2
Accession:XM_005268629
Location:INTRON

Gene Symbol:LRRK2
Accession:XM_011537882
Location:INTRON

Gene Symbol:LRRK2
Accession:XM_017018787
Location:INTRON

Gene Symbol:LRRK2
Accession:XM_017018786
Location:INTRON

Gene Symbol:LRRK2
Accession:XM_011537881
Location:INTRON

Gene Symbol:LRRK2
Accession:XM_047428277
Location:INTRON

Gene Symbol:LRRK2
Accession:XM_011537877
Location:INTRON

Gene Symbol:LRRK2
Accession:XR_007063041
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002065834 CLINVAR
dbSNP (RS) rs898586557 CLINVAR
MedGen C1846862 CLINVAR
NCBI Gene LRRK2 CLINVAR
OMIM 607060 CLINVAR
  609007 CLINVAR