C72* (p.Cys72Ter) variant of CD40LG (CD40 ligand)
C72* (p.Cys72Ter) in CD40LG (CD40 ligand) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes structural context.
C72* (p.Cys72Ter) variant details
- p.Cys72Ter
- rs1556136635
- ClinGen CA414753207
- ClinVar RCV000523806
- Ensembl rs1556136635
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available