RGD:11628249 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:11628249 -  Homo sapiens

RGD ID: 11628249
RS ID: rs533879406
ClinVar ID: CV350786
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC130066788  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 21 45,196,205
GRCh38 21 43,776,324
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Prevalence Trait Synonyms
LRG_485t1:c.-55G>A
LRG_485:g.5055G>A
NG_011545.1:g.5055G>A
NC_000021.9:g.43776324C>T
More... 		01/13/2018 5 prime utr variant uncertain significance adolescent 1-9 / 1 000 000 Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg); Epilepsy, progressive myoclonic type 1; EPILEPSY, PROGRESSIVE MYOCLONIC, 1A; Epilepsy, progressive myoclonus 1; Myoclonic epilepsy of Unverricht and Lundborg; Myoclonus progressive epilepsy of Unverricht and Lundborg; Progressive myoclonus epilepsy baltic myoclonic epilepsy; Unverricht-Lundborg Disease
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000297601 CLINVAR
dbSNP (RS) rs533879406 CLINVAR
MedGen C0751785 CLINVAR
NCBI Gene CSTB CLINVAR
  LOC130066788 CLINVAR
OMIM 254800 CLINVAR
  601145 CLINVAR
SNOMED CT 230423006 CLINVAR