The IL7R gene homepage

General information
Gene symbol IL7R
Gene name interleukin 7 receptor
Chromosome 5
Chromosomal band p13
Imprinted Unknown
Genomic reference LRG_74
Transcript reference NM_002185.3, XM_005248299.2, XM_005248300.1
Associated with diseases Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive
Citation reference(s) -
Curators (1) Johan T. den Dunnen
Total number of public variants reported 170
Unique public DNA variants reported 19
Individuals with public variants 35
Hidden variants 38
Date created November 30, -0001
Date last updated September 28, 2016
Version IL7R:160928

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
UCSC Genome Browser Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
External URL List of LSDBs for this gene
The reference LOVD for this gene, if available
HGNC HGNC:6024
Entrez Gene 3575
PubMed articles IL7R
OMIM - Gene 146661
OMIM - Diseases Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00012181 5 interleukin 7 receptor NM_002185.3 NP_002176.2 170
00044808 5 transcript variant X2 XM_005248300.1 XP_005248357.1 -
00044809 5 transcript variant X1 XM_005248299.2 XP_005248356.1 -