D128Y (p.Asp128Tyr) variant of LAMP2 (P13473)
D128Y (p.Asp128Tyr) in LAMP2 (P13473) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Danon disease. The record also includes published literature.
D128Y (p.Asp128Tyr) variant details
- p.Asp128Tyr
- rs2520906874
- ClinGen CA414402749
- ClinVar RCV003623662
- Uncertain significance
- Danon disease
- Missense
- ClinVar: Uncertain significance (Danon disease)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)