E122* (p.Glu122Ter) variant of LAMB3 (Laminin subunit beta-3)
E122* (p.Glu122Ter) in LAMB3 (Laminin subunit beta-3) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes structural context.
E122* (p.Glu122Ter) variant details
- p.Glu122Ter
- rs2464894271
- ClinGen CA344597161
- ClinVar RCV002810709
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available