RGD:11628522 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:11628522 -  Homo sapiens

RGD ID: 11628522
RS ID: rs147593294
ClinVar ID: CV352446
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TBX22  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 X 79,270,366
GRCh38 X 80,014,867
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_008998.1:g.5112A>G
NC_000023.11:g.80014867A>G
NC_000023.10:g.79270366A>G
NM_001109878.2:c.-23A>G
More... 		06/14/2016 5 prime utr variant likely benign infancy Cleft palate X-linked
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:TBX22
Accession:NM_001109878
Location:5UTRS;EXON

Gene Symbol:TBX22
Accession:NM_001109879
Location:5UTRS;EXON

Gene Symbol:TBX22
Accession:NM_016954
Location:INTRON

Gene Symbol:TBX22
Accession:NM_001303475
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000304000 CLINVAR
dbSNP (RS) rs147593294 CLINVAR
MedGen C1844830 CLINVAR
NCBI Gene TBX22 CLINVAR
OMIM 300307 CLINVAR
  303400 CLINVAR