RGD:11589308 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:11589308 -  Homo sapiens

RGD ID: 11589308
RS ID: rs112334283
ClinVar ID: CV290381
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: EFEMP1  LOC112268416  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 2 56,093,145
GRCh38 2 55,866,010
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Trait Synonyms
NG_009098.1:g.62788G>A
NC_000002.12:g.55866010C>T
NC_000002.11:g.56093145C>T
NM_001039349.3:c.*1063G>A
More... 		06/14/2016 3 prime utr variant benign adult Doyne honeycomb degeneration of retina; DRUSEN, RADIAL, AUTOSOMAL DOMINANT; MALATTIA LEVENTINESE
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:EFEMP1
Accession:NM_001039349
Location:3UTRS;EXON

Gene Symbol:EFEMP1
Accession:NM_001039348
Location:3UTRS;EXON

Gene Symbol:EFEMP1
Accession:XM_005264205
Location:3UTRS;EXON

Gene Symbol:EFEMP1
Accession:XM_017003586
Location:3UTRS;EXON

Gene Symbol:LOC112268416
Accession:XR_002959388
Location:INTRON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000309728 CLINVAR
dbSNP (RS) rs112334283 CLINVAR
MedGen C1832174 CLINVAR
NCBI Gene EFEMP1 CLINVAR
OMIM 126600 CLINVAR
  601548 CLINVAR