Q18* (p.Gln18Ter) variant of LAMB3 (Laminin subunit beta-3)
Q18* (p.Gln18Ter) 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 population frequency data and structural context.
Q18* (p.Gln18Ter) variant details
- p.Gln18Ter
- rs777231178
- ClinGen CA1376115
- ClinVar RCV001952543
- ExAC rs777231178
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available