RGD:11095226 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:11095226 -  Homo sapiens

RGD ID: 11095226
RS ID: rs876657733
ClinVar ID: CV228321
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: USH2A  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 1 216,051,099
GRCh38 1 215,877,757
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Prevalence Trait Synonyms
NC_000001.11:g.215877757C>T
NC_000001.10:g.216051099C>T
NG_009497.2:g.550692G>A
NM_206933.4:c.8681+1G>A
More... 		07/12/2019 splice donor variant pathogenic|likely pathogenic 1-9 / 100 000 none provided; Rare genetic deafness; RETINAL DISEASE IN USHER SYNDROME TYPE IIA, MODIFIER OF; USHER SYNDROME, TYPE IIA; Usher Syndromes; Usher's syndrome
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:USH2A
Accession:NM_206933
Location:INTRON

Gene Symbol:USH2A
Accession:NM_007123
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:10729113   PMID:10909849   PMID:16199547   PMID:20507924   PMID:24033266   PMID:25649381   PMID:25741868   PMID:28492532   PMID:28944237  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000222048 CLINVAR
  RCV000673469 CLINVAR
  RCV003226253 CLINVAR
  RCV003445710 CLINVAR
  RCV003688833 CLINVAR
dbSNP (RS) rs876657733 CLINVAR
MedGen C0271097 CLINVAR
  C1848634 CLINVAR
  C3151138 CLINVAR
  C3661900 CLINVAR
NCBI Gene USH2A CLINVAR
OMIM 276901 CLINVAR
  608400 CLINVAR
  613809 CLINVAR