LOVD IL12B homepage

General information
Gene name Interleukin 12B (natural killer cell stimulatory factor 2, cytotoxic lymphocyte maturation factor 2, p40)
Gene symbol IL12B
Chromosome Location 5q31.1-q33.1
Database location grenada.lumc.nl
Curator Esther van de Vosse
PubMed references View all (unique) PubMed references in the IL12B database
Date of creation April 29, 2010
Last update August 01, 2017
Version IL12B170801
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_009618.1
Transcript refseq ID NM_002187.2
Exon/intron information Exon/intron information table
Total number of unique DNA variants reported 12
Total number of individuals with variant(s) 54
Total number of variants reported 103
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Graphical displays and utilities
Summary tables Summary of all sequence variants in the IL12B 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 IL12B database, without patient data
Complete sequence variant listing Listing of all sequence variants in the IL12B database
Variants with no known pathogenicity Listing of all IL12B 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/IL12B
HGNC 5970
Entrez Gene 3593
OMIM - Gene 161561
OMIM - Disease Immunodeficiency 29; IMD29; IL12B deficiency
UniProtKB (SwissProt/TrEMBL) P29460
GeneCards IL12B
GeneTests IL12B
External link #1 Orphanet
External link #2 IL12Bbase: Mutation registry for Interleukin-12 (IL-12) p40 deficiency

Copyright & disclaimer
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We have used all reasonable efforts to ensure that the information displayed on these pages and contained in the databases is of high quality. We make no warranty, express or implied, as to its accuracy or that the information is fit for a particular purpose, and will not be held responsible for any consequences arising out of any inaccuracies or omissions. Individuals, organisations and companies which use this database do so on the understanding that no liability whatsoever either direct or indirect shall rest upon the curator(s) or any of their employees or agents for the effects of any product, process or method that may be produced or adopted by any part, notwithstanding that the formulation of such product, process or method may be based upon information here provided.