W140C (p.Trp140Cys) variant of CD40LG (CD40 ligand)
W140C (p.Trp140Cys) in CD40LG (CD40 ligand) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Hyper-IgM syndrome type 1. The record also includes published literature and structural context.
W140C (p.Trp140Cys) variant details
- p.Trp140Cys
- rs104894776
- ClinGen CA414755573
- ClinVar RCV003066383
- UniProt VAR 007517
- Pathogenic
- Hyper-IgM syndrome type 1
- Missense
- ClinVar: Pathogenic (Hyper-IgM syndrome type 1)
- EBI: Pathogenic (in HIGM1)
- UniProt: Pathogenic (in HIGM1)
- Structural context available
- Cited in: Mutations of the CD40 ligand gene in 13 Japanese patients with X-linked hyper-IgM syndrome. (PMID 9150729)
- Cited in: CD40 Ligand Deficiency. (PMID 20301576)