CD40LG homepage - CCHMC Molecular Genetics Laboratory Mutation Database - Leiden Open Variation Database

CCHMC Molecular Genetics Laboratory Mutation Database

CD40 ligand (CD40LG)

LOVD v.2.0 Build 36 [ Current LOVD status ]
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Curator: Ammar Husami

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
Add sequence variant	Submit a sequence variant
First time submitters	Register here
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
HGMD	CD40LG
GeneCards	CD40LG
GeneTests	CD40LG
External link	CD40L LSDB : X-linked Hyper-IgM syndrome (XHIM)