C109* (p.Cys109Ter) variant of NPC1 (O15118)
C109* (p.Cys109Ter) in NPC1 (O15118) is a protein-truncating change. Clinical records from EBI and UniProt describe it as likely pathogenic. The record also includes published literature and structural context.
C109* (p.Cys109Ter) variant details
- p.Cys109Ter
- rs2059164764
- ClinGen CA401785739
- ClinVar RCV001263845
- Ensembl rs2059164764
- Likely pathogenic
- Stop Gained
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Niemann-Pick Disease Type C. (PMID 20301473)