D501Y (p.Asp501Tyr) variant of NPC1 (O15118)
D501Y (p.Asp501Tyr) in NPC1 (O15118) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Niemann-Pick disease, type C; Niemann-Pick disease, type C1. The record also includes published literature and structural context.
D501Y (p.Asp501Tyr) variant details
- p.Asp501Tyr
- rs2511275485
- ClinGen CA401775510
- ClinVar RCV003501741
- ClinVar RCV005419656
- Pathogenic
- Niemann-Pick disease, type C; Niemann-Pick disease, type C1
- Missense
- ClinVar: Pathogenic (Niemann-Pick disease, type C; Niemann-Pick disease, type C1)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Niemann-Pick Disease Type C. (PMID 20301473)