S22* (p.Ser22Ter) variant of NPC1 (O15118)
S22* (p.Ser22Ter) in NPC1 (O15118) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes published literature and structural context.
S22* (p.Ser22Ter) variant details
- p.Ser22Ter
- rs2511358187
- ClinGen CA402041432
- ClinVar RCV003605138
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Niemann-Pick Disease Type C. (PMID 20301473)