K68* (p.Lys68Ter) variant of LAMB3 (Laminin subunit beta-3)
K68* (p.Lys68Ter) in LAMB3 (Laminin subunit beta-3) is a protein-truncating change. Clinical records from EBI and UniProt describe it as likely pathogenic. The record also includes published literature and structural context.
K68* (p.Lys68Ter) variant details
- p.Lys68Ter
- rs2076427827
- ClinGen CA344597890
- ClinVar RCV001264233
- Ensembl rs2076427827
- Likely pathogenic
- Stop Gained
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Junctional Epidermolysis Bullosa. (PMID 20301304)