RGD:11663708 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:11663708 -  Homo sapiens

RGD ID: 11663708
RS ID: rs886057327
ClinVar ID: CV352331
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CRYBA4  CRYBB1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 22 27,013,979
GRCh38 22 26,618,015
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_009826.1:g.5013C>T
NC_000022.11:g.26618015G>A
NC_000022.10:g.27013979G>A
NM_001887.4:c.-58C>T
More... 		06/14/2016 5 prime utr variant uncertain significance CATARACT 17, CONGENITAL NUCLEAR, AUTOSOMAL RECESSIVE; CATARACT 17, PULVERULENT; Cataract, congenital nuclear, autosomal recessive 3
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:CRYBB1
Accession:XM_011529899
Location:5UTRS;EXON

Gene Symbol:CRYBB1
Accession:NM_001887
Location:5UTRS;EXON

Gene Symbol:CRYBA4
Accession:NM_001886
Location:INTRON

Gene Symbol:CRYBA4
Accession:XM_006724140
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000398365 CLINVAR
dbSNP (RS) rs886057327 CLINVAR
MedGen C3888124 CLINVAR
NCBI Gene CRYBA4 CLINVAR
  CRYBB1 CLINVAR
OMIM 123631 CLINVAR
  600929 CLINVAR
  611544 CLINVAR