R42X variant of LAMB3 (Laminin subunit beta-3)
R42X in LAMB3 (Laminin subunit beta-3) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes structural context.
R42X variant details
- rs80356680
- Pathogenic
- Missense
- EBI: ['pathogenic']
- UniProt: Pathogenic
- Structural context available