C18* (p.Cys18Ter) variant of LAMP2 (P13473)

Name: LAMP2 C18* (p.Cys18Ter) variant | CATVariant
Creator: Center for Precision Medicine and Data Sciences
Published: 2026-08-19
License: https://catvariant.com/terms-of-use

C18* (p.Cys18Ter) in LAMP2 (P13473) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes published literature.

C18* (p.Cys18Ter) variant details

p.Cys18Ter
rs2147294814
ClinGen CA414397829
ClinVar RCV001893587
Ensembl rs2147294814
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)