Q117* (p.Gln117Ter) variant of LAMB3 (Laminin subunit beta-3)
Q117* (p.Gln117Ter) 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.
Q117* (p.Gln117Ter) variant details
- p.Gln117Ter
- rs2102444886
- ClinGen CA344597230
- ClinVar RCV001906126
- Ensembl rs2102444886
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available