G29* (p.Gly29Ter) variant of NPC1 (O15118)
G29* (p.Gly29Ter) 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.
G29* (p.Gly29Ter) variant details
- p.Gly29Ter
- rs2145552346
- ClinGen CA402041383
- ClinVar RCV001383131
- Ensembl rs2145552346
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Niemann-Pick Disease Type C. (PMID 20301473)