K62* (p.Lys62Ter) variant of LAMP2 (P13473)
K62* (p.Lys62Ter) in LAMP2 (P13473) is a protein-truncating change. Clinical records from EBI and UniProt describe it as likely pathogenic. The record also includes published literature.
K62* (p.Lys62Ter) variant details
- p.Lys62Ter
- rs2520912530
- ClinGen CA2580612467
- ClinVar RCV003314467
- Likely pathogenic
- Stop Gained
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Cited in: 2014 ESC Guidelines on diagnosis and management of hypertrophic cardiomyopathy: the Task Force for the Diagnosis and… (PMID 25173338)
- Cited in: Danon Disease. (PMID 32134616)