RGD:11591624 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:11591624 -  Homo sapiens

RGD ID: 11591624
RS ID: rs190393061
ClinVar ID: CV278676
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PINK1  PINK1-AS  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 1 20,977,716
GRCh38 1 20,651,223
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_008164.1:g.22769G>A
NC_000001.11:g.20651223G>A
NC_000001.10:g.20977716G>A
NR_046507.1:n.971C>T
More... 		01/12/2018 3 prime utr variant likely benign|uncertain significance PARKINSON DISEASE 6, EARLY-ONSET; PARKINSON DISEASE 6, MODIFIER OF; PINK1-Related Parkinson Disease
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:PINK1
Accession:NM_032409
Location:3UTRS;EXON

Gene Symbol:PINK1-AS
Accession:NR_046507
Location:EXON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000330748 CLINVAR
  RCV001100198 CLINVAR
dbSNP (RS) rs190393061 CLINVAR
MedGen C1853833 CLINVAR
  CN239372 CLINVAR
NCBI Gene PINK1 CLINVAR
  PINK1-AS CLINVAR
OMIM 605909 CLINVAR
  608309 CLINVAR