C113Y (p.Cys113Tyr) variant of NPC1 (O15118)
C113Y (p.Cys113Tyr) in NPC1 (O15118) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Niemann-Pick disease, type C1. The record also includes published literature and structural context.
C113Y (p.Cys113Tyr) variant details
- p.Cys113Tyr
- rs2511341428
- ClinGen CA401785632
- ClinVar RCV002284102
- Likely pathogenic
- Niemann-Pick disease, type C1
- Missense
- ClinVar: Likely pathogenic (Niemann-Pick disease, type C1)
- EBI: Likely pathogenic (in NPC1)
- UniProt: Likely pathogenic (in NPC1)
- Structural context available
- Cited in: Niemann-Pick Disease Type C. (PMID 20301473)