K49* (p.Lys49Ter) variant of NPC1 (O15118)
K49* (p.Lys49Ter) 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.
K49* (p.Lys49Ter) variant details
- p.Lys49Ter
- rs1555642296
- ClinGen CA658823795
- ClinVar RCV000668007
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Niemann-Pick Disease Type C. (PMID 20301473)