Q46* (p.Gln46Ter) variant of LAMC2 (Laminin subunit gamma-2)
Q46* (p.Gln46Ter) in LAMC2 (Laminin subunit gamma-2) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes structural context.
Q46* (p.Gln46Ter) variant details
- p.Gln46Ter
- rs2102196403
- ClinGen CA343669964
- ClinVar RCV001388079
- ClinVar RCV003987858
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available