N123Y (p.Asn123Tyr) variant of LAMP2 (P13473)
N123Y (p.Asn123Tyr) in LAMP2 (P13473) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Danon disease.
N123Y (p.Asn123Tyr) variant details
- p.Asn123Tyr
- TOPMed rs1921042232
- Uncertain significance
- Danon disease
- Missense
- ClinVar: Uncertain significance (Danon disease)
- UniProt: Uncertain significance