Y27* (p.Tyr27Ter) variant of LAMB3 (Laminin subunit beta-3)
Y27* (p.Tyr27Ter) 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.
Y27* (p.Tyr27Ter) variant details
- p.Tyr27Ter
- rs2464954277
- ClinGen CA344566307
- ClinVar RCV002309202
- Likely pathogenic
- Stop Gained
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Junctional Epidermolysis Bullosa. (PMID 20301304)
- Cited in: Dystrophic Epidermolysis Bullosa. (PMID 20301481)