E61* (p.Glu61Ter) variant of NPC1 (O15118)
E61* (p.Glu61Ter) 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.
E61* (p.Glu61Ter) variant details
- p.Glu61Ter
- rs2059213874
- ClinGen CA401786671
- ClinVar RCV001198345
- ClinVar RCV005641980
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Niemann-Pick Disease Type C. (PMID 20301473)