rs761717462 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 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
Advanced Search (OLGA)

Variant: rs761717462 -  Homo sapiens

RGD ID: 8558629
RS ID: rs761717462
ClinVar ID: CV20374
Genic Status: GENIC
Type: deletion (SO:0000159) 
Associated Genes: LRAT  
Reference Nucleotide: AA
Variant Nucleotide: -
Position
Assembly Chr Position
GRCh37 4 155,665,876 - 155,665,878
GRCh38 4 154,744,724 - 154,744,726
JBrowse: View Region in Genome Browser (JBrowse)
Model



HGVS Name(s)
Last Evaluated
Molecular Consequence
Clinical Significance
Trait Synonyms
NC_000004.12:g.154744726_154744727del
NM_004744.5:c.400_401del
NG_009110.1:g.5716_5717del
NC_000004.11:g.155665878_155665879del
More... 		05/19/2023 frameshift variant pathogenic none provided; RECLASSIFIED - ADRA2C POLYMORPHISM; RECLASSIFIED - ADRB1 POLYMORPHISM
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
CV20374HumanLeber congenital amaurosis 14  IAGP 8554872ClinVar Annotator: match by term: RETINAL DYSTROPHY, EARLY-ONSET SEVERE, LRAT-RELATEDClinVarPMID:11381255|PMID:22559933|PMID:24265693|PMID:28492532


.
PMID:11381255   PMID:22559933   PMID:24265693   PMID:28492532  



Database
Acc Id
Source(s)
ClinVar RCV000005662 CLINVAR
  RCV003555926 CLINVAR
dbSNP (RS) rs761717462 CLINVAR
MedGen C2750064 CLINVAR
  C3661900 CLINVAR
NCBI Gene LRAT CLINVAR
OMIM 604863 CLINVAR
OMIM Allele 604863.0002 CLINVAR