M1T (p.Met1Thr) variant of LAMP2 (P13473)
M1T (p.Met1Thr) in LAMP2 (P13473) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Danon disease. The record also includes published literature.
M1T (p.Met1Thr) variant details
- p.Met1Thr
- rs2520948481
- ClinGen CA414398157
- ClinVar RCV003228085
- Likely pathogenic
- Danon disease
- Missense
- ClinVar: Likely pathogenic (Danon disease)
- EBI: Likely pathogenic
- UniProt: Likely 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)