L58* (p.Leu58Ter) variant of NPC1 (O15118)
L58* (p.Leu58Ter) 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.
L58* (p.Leu58Ter) variant details
- p.Leu58Ter
- rs2511357450
- ClinGen CA402041185
- ClinVar RCV002308095
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Niemann-Pick Disease Type C. (PMID 20301473)