R96G (p.Arg96Gly) variant of NPC1 (O15118)
R96G (p.Arg96Gly) in NPC1 (O15118) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Niemann-Pick disease, type C; Niemann-Pick disease, type C1. The record also includes published literature and structural context.
R96G (p.Arg96Gly) variant details
- p.Arg96Gly
- rs2511352031
- ClinGen CA401786340
- ClinVar RCV003329202
- Conflicting interpretations
- Niemann-Pick disease, type C; Niemann-Pick disease, type C1
- Missense
- ClinVar: Conflicting classifications of pathogenicity (Niemann-Pick disease, type C; 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)