S36* (p.Ser36Ter) variant of LAMP2 (P13473)
S36* (p.Ser36Ter) in LAMP2 (P13473) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes published literature.
S36* (p.Ser36Ter) variant details
- p.Ser36Ter
- rs2147287657
- ClinGen CA414403727
- ClinVar RCV001799285
- Ensembl rs2147287657
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Cited in: HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this… (PMID 21810866)