C18R (p.Cys18Arg) variant of LAMP2 (P13473)
C18R (p.Cys18Arg) 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.
C18R (p.Cys18Arg) variant details
- p.Cys18Arg
- rs2520947926
- ClinGen CA414397834
- ClinVar RCV003622203
- 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)