R25* (p.Arg25Ter) variant of LAMP2 (P13473)
R25* (p.Arg25Ter) in LAMP2 (P13473) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes published literature.
R25* (p.Arg25Ter) variant details
- p.Arg25Ter
- rs2520913421
- ClinGen CA2580100339
- ClinVar RCV003055563
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: 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)