Y109* (p.Tyr109Ter) variant of LAMP2 (P13473)

Name: LAMP2 Y109* (p.Tyr109Ter) variant | CATVariant
Creator: Center for Precision Medicine and Data Sciences
Published: 2026-08-19
License: https://catvariant.com/terms-of-use

Y109* (p.Tyr109Ter) in LAMP2 (P13473) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes published literature.

Y109* (p.Tyr109Ter) variant details

p.Tyr109Ter
rs1397410765
ClinGen CA414402987
ClinVar RCV001783587
Ensembl rs1397410765
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)