LOVD IL2RG homepage

General information
Gene name interleukin 2 receptor, gamma (severe combined immunodeficiency)
Gene symbol IL2RG
Chromosome Location Xq13
Database location https://research.cchmc.org/LOVD2/
Curator Ammar Husami
PubMed references View all (unique) PubMed references in the IL2RG database
Date of creation April 19, 2010
Last update February 04, 2013
Version IL2RG130204
Add sequence variant Submit a sequence variant
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Reference sequence file coding DNA reference sequence for describing sequence variants
Genomic refseq ID NG_009088.1
Exon/intron information Exon/intron information table
Total number of unique DNA variants reported 96
Total number of individuals with variant(s) 3
Total number of variants reported 96
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Graphical displays and utilities
Summary tables Summary of all sequence variants in the IL2RG database, sorted by type of variant (with graphical displays and statistics)
Reading-frame checker The Reading-frame checker generates a prediction of the effect of whole-exon changes

Sequence variant tables
Unique sequence variants Listing of all unique sequence variants in the IL2RG database, without patient data
Complete sequence variant listing Listing of all sequence variants in the IL2RG database
Variants with no known pathogenicity Listing of all IL2RG variants reported to have no noticeable phenotypic effect (note: excluding variants of unknown effect)

Search the database
By type of variant View all sequence variants of a certain type
Simple search Query the database by selecting the most important variables (exon number, type of variant, disease phenotype)
Advanced search Query the database by selecting a combination of variables
Based on patient origin View all variants based on your patient origin search terms

Links to other resources
HGNC 6010
Entrez Gene 3561
OMIM - Gene 308380
UniProtKB (SwissProt/TrEMBL) P31785
GeneCards IL2RG
GeneTests IL2RG
External link #1 X-Linked Severe Combined Immuno deficiency SCID Jeniffer Puck, Joie Davies, Roxanne Fisher, Amy Pepper, NHGRI/NIH, Bethesda
External link #2 Mental Retardation database Jacopo Celli and Johan den Dunnen