RGD:11608869 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:11608869 -  Homo sapiens

RGD ID: 11608869
RS ID: rs74973937
ClinVar ID: CV321793
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: IL2RA  
Reference Nucleotide: T
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 10 6,053,063
GRCh38 10 6,011,100
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Prevalence Trait Synonyms
LRG_73t1:c.*1772A>C
LRG_73:g.56210A>C
NG_007403.1:g.56210A>C
NC_000010.11:g.6011100T>G
More... 		01/13/2018 3 prime utr variant likely benign|uncertain significance infancy <1 / 1 000 000 IL2RA DEFICIENCY; IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY; Interleukin 2 receptor, alpha, deficiency of
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:IL2RA
Accession:NM_000417
Location:3UTRS;EXON

Gene Symbol:IL2RA
Accession:NM_001308243
Location:3UTRS;EXON

Gene Symbol:IL2RA
Accession:NM_001308242
Location:3UTRS;EXON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000360891 CLINVAR
dbSNP (RS) rs74973937 CLINVAR
MedGen C1853392 CLINVAR
NCBI Gene IL2RA CLINVAR
OMIM 147730 CLINVAR
  606367 CLINVAR