T71S (p.Thr71Ser) variant of LAMP2 (P13473)
T71S (p.Thr71Ser) in LAMP2 (P13473) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Danon disease. The record also includes published literature and structural context.
T71S (p.Thr71Ser) variant details
- p.Thr71Ser
- rs2520908353
- ClinGen CA414403474
- ClinVar RCV002999832
- Likely benign
- Danon disease
- Missense
- ClinVar: Likely benign (Danon disease)
- EBI: Likely benign
- UniProt: Likely benign
- Structural context available
- 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)