CD40LG, CD40 ligand, 959

N. diseases: 453; N. variants: 25
Disease: Hyper-IgM Immunodeficiency Syndrome, Type 1 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs193922135
rs193922135
Entrez Id: 959
Gene Symbol: CD40LG
CD40LG
CUI: C0398689
Disease:
Hyper-IgM Immunodeficiency Syndrome, Type 1 		0.710 GeneticVariation BEFREE Three patients with X-linked hyper-IgM syndrome (XHIM), who were all asymptomatic until they developed B19-induced chronic anemia at the ages of 8, 14, and 17 years, respectively, were found to have mutations of the CD40L gene, including a missense mutation (T254M), a nonsense mutation resulting in a new initiation codon and loss of the intracellular domain (R11X), and a splice site mutation (nt 309+2t-->a). 9697710 1998
dbSNP: rs193922135
rs193922135
Entrez Id: 959
Gene Symbol: CD40LG
CD40LG
CUI: C0398689
Disease:
Hyper-IgM Immunodeficiency Syndrome, Type 1 		T 0.710 CausalMutation CLINVAR