Y26* (p.Tyr26Ter) variant of L1CAM (Neural cell adhesion molecule L1)
Y26* (p.Tyr26Ter) in L1CAM (Neural cell adhesion molecule L1) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes structural context.
Y26* (p.Tyr26Ter) variant details
- p.Tyr26Ter
- rs2521043571
- ClinGen CA415141915
- ClinVar RCV003066410
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available