C31R (p.Cys31Arg) variant of NPC1 (O15118)
C31R (p.Cys31Arg) in NPC1 (O15118) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Niemann-Pick disease, type C1. The record also includes published literature and structural context.
C31R (p.Cys31Arg) variant details
- p.Cys31Arg
- rs2511357965
- ClinGen CA402041371
- ClinVar RCV003444429
- Uncertain significance
- Niemann-Pick disease, type C1
- Missense
- ClinVar: Uncertain significance (Niemann-Pick disease, type C1)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Niemann-Pick Disease Type C. (PMID 20301473)