Q60* (p.Gln60Ter) variant of NPC1 (O15118)
Q60* (p.Gln60Ter) 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.
Q60* (p.Gln60Ter) variant details
- p.Gln60Ter
- rs2511357416
- ClinGen CA401787318
- ClinVar RCV003022849
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Niemann-Pick Disease Type C. (PMID 20301473)