LOVD CD40LG homepage

General information
Gene name CD40 ligand
Gene symbol CD40LG
Chromosome Location Xq26
Database location https://research.cchmc.org/LOVD2/
Curator Ammar Husami
PubMed references View all (unique) PubMed references in the CD40LG database
Date of creation April 19, 2010
Last update April 23, 2010
Version CD40LG100423
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Reference sequence file coding DNA reference sequence for describing sequence variants
Genomic refseq ID NG_007280.1
Transcript refseq ID NM_000074.2
Exon/intron information Exon/intron information table
Total number of unique DNA variants reported 77
Total number of individuals with variant(s) 2
Total number of variants reported 77
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Graphical displays and utilities
Summary tables Summary of all sequence variants in the CD40LG 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 CD40LG database, without patient data
Complete sequence variant listing Listing of all sequence variants in the CD40LG database
Variants with no known pathogenicity Listing of all CD40LG 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 11935
Entrez Gene 959
OMIM - Gene 300386
UniProtKB (SwissProt/TrEMBL) P29965
GeneCards CD40LG
GeneTests CD40LG
External link CD40L LSDB : X-linked Hyper-IgM syndrome (XHIM)