RGD:11581268 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:11581268 -  Homo sapiens

RGD ID: 11581268
RS ID: rs11256354
ClinVar ID: CV266237
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: IL2RA  LOC124902368  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 10 6,061,407
GRCh38 10 6,019,444
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
NP_001295172.1:p.Thr141=
LRG_73t1:c.711A>G
LRG_73:g.47866A>G
NG_007403.1:g.47866A>G
More... 		10/19/2020 synonymous variant benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance infancy <1 / 1 000 000 AllHighlyPenetrant; IL2RA DEFICIENCY; IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY; Interleukin 2 receptor, alpha, deficiency of; none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:IL2RA
Accession:NM_000417
Location:EXON
Amino Acid Prediction: T to T (synonymous)
Amino Acid Position: 237
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDSYLLMWGLLTFIMVPGCQAELCDDDPPEIPHATFKAMAYKEGTMLNCECKRGFRRIKSGSLYMLCTGNSSHSSWDNQC
QCTSSATRNTTKQVTPQPEEQKERKTTEMQSPMQPVDQASLPGHCREPPPWENEATERIYHFVVGQMVYYQCVQGYRALH
RGPAESVCKMTHGKTRWTQPQLICTGEMETSQFPGEEKPQASPEGRPESETSCLVTTTDFQIQTEMAATMETSIFTTEYQ
VAVAGCVFLLISVLLLSGLTWQRRQRKSRRTI*

Gene Symbol:IL2RA
Accession:NM_001308243
Location:EXON
Amino Acid Prediction: T to T (synonymous)
Amino Acid Position: 141
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDSYLLMWGLLTFIMVPGCQAELCDDDPPEIPHATFKAMAYKEGTMLNCECKRGFRRIKSGSLYMLCTGNSSHSSWDNQC
QCTSSATRNTTKQVTPQPEEQKERKTTEMQSPMQPVDQASLPDFQIQTEMAATMETSIFTTEYQVAVAGCVFLLISVLLL
SGLTWQRRQRKSRRTI*

Gene Symbol:IL2RA
Accession:NM_001308242
Location:EXON
Amino Acid Prediction: T to T (synonymous)
Amino Acid Position: 165
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDSYLLMWGLLTFIMVPGCQAELCDDDPPEIPHATFKAMAYKEGTMLNCECKRGFRRIKSGSLYMLCTGNSSHSSWDNQC
QCTSSATRNTTKQVTPQPEEQKERKTTEMQSPMQPVDQASLPGEEKPQASPEGRPESETSCLVTTTDFQIQTEMAATMET
SIFTTEYQVAVAGCVFLLISVLLLSGLTWQRRQRKSRRTI*

Gene Symbol:LOC124902368
Accession:XR_007062042
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000299953 CLINVAR
  RCV000363300 CLINVAR
  RCV001706412 CLINVAR
dbSNP (RS) rs11256354 CLINVAR
MedGen C1853392 CLINVAR
  C3661900 CLINVAR
  CN169374 CLINVAR
NCBI Gene IL2RA CLINVAR
OMIM 147730 CLINVAR
  606367 CLINVAR