RGD:8645364 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:8645364 -  Homo sapiens

RGD ID: 8645364
RS ID: rs61752890
ClinVar ID: CV104772
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC124904198  RPE65  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 1 68,906,531
GRCh38 1 68,440,848
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_008472.1:g.14112G>A
NC_000001.11:g.68440848C>T
NC_000001.10:g.68906531C>T
NM_000329.3:c.643+5G>A
More... 		02/22/2022 intron|intron variant uncertain significance|not provided AllHighlyPenetrant; none provided

Variant Details
Variant Transcripts
Gene Symbol:RPE65
Accession:NM_001406853
Location:INTRON

Gene Symbol:RPE65
Accession:NM_000329
Location:INTRON

Gene Symbol:RPE65
Accession:NM_001406857
Location:INTRON

Gene Symbol:RPE65
Accession:NM_001406860
Location:INTRON

Gene Symbol:RPE65
Accession:NM_001406856
Location:INTRON

Gene Symbol:RPE65
Accession:NM_001406859
Location:INTRON

Gene Symbol:LOC124904198
Accession:XR_007066164
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:11095629  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000085212 CLINVAR
  RCV001844037 CLINVAR
dbSNP (RS) rs61752890 CLINVAR
MedGen CN169374 CLINVAR
  CN517202 CLINVAR
NCBI Gene RPE65 CLINVAR
OMIM 180069 CLINVAR