W9* (p.Trp9Ter) variant of L1CAM (Neural cell adhesion molecule L1)
W9* (p.Trp9Ter) in L1CAM (Neural cell adhesion molecule L1) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in HYCX. The record also includes structural context.
W9* (p.Trp9Ter) variant details
- p.Trp9Ter
- rs1557094409
- ClinGen CA415143117
- ClinVar RCV000657775
- Ensembl rs1557094409
- Pathogenic
- in HYCX
- Stop Gained
- EBI: Pathogenic (in HYCX)
- UniProt: Pathogenic (in HYCX)
- Structural context available