LOVD IL12RB1 homepage

General information
Gene name Interleukin 12 receptor, beta 1
Gene symbol IL12RB1
Chromosome Location 19p13.1
Database location grenada.lumc.nl
Curator Esther van de Vosse
Database reference for citations Review of this database: van de Vosse et al 2013
PubMed references View all (unique) PubMed references in the IL12RB1 database
Date of creation April 29, 2010
Last update June 05, 2018
Version IL12RB1 180605
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_007366.1
Transcript refseq ID NM_005535.1
Exon/intron information Exon/intron information table
Total number of unique DNA variants reported 192
Total number of individuals with variant(s) 223
Total number of variants reported 556
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Graphical displays and utilities
Summary tables Summary of all sequence variants in the IL12RB1 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
UCSC Genome Browser Show variants in the UCSC Genome Browser (compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Sequence variant tables
Unique sequence variants Listing of all unique sequence variants in the IL12RB1 database, without patient data
Complete sequence variant listing Listing of all sequence variants in the IL12RB1 database
Variants with no known pathogenicity Listing of all IL12RB1 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
Search through hidden entries Find the number of variant entries in the database (including hidden entries) matching your search terms.

Links to other resources
Homepage http://www.LOVD.nl/IL12RB1
HGNC 5971
Entrez Gene 3594
OMIM - Gene 601604
OMIM - Disease Immunodeficiency 30; IMD30; IL12RB1 deficiency
UniProtKB (SwissProt/TrEMBL) P42701
HGMD IL12RB1
GeneCards IL12RB1
GeneTests IL12RB1
External link #1 Orphanet
External link #2 IL12RB1base: Mutation registry for Interleukin-12 receptor β1 deficiency

Copyright & disclaimer
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