S40* (p.Ser40Ter) variant of NPC2 (P61916)
S40* (p.Ser40Ter) in NPC2 (P61916) is a protein-truncating change. Clinical records from EBI and UniProt describe it as likely pathogenic. The record also includes published literature and structural context.
S40* (p.Ser40Ter) variant details
- p.Ser40Ter
- rs2506107289
- ClinGen CA2582341761
- ClinVar RCV003333265
- Likely pathogenic
- Stop Gained
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Niemann-Pick Disease Type C. (PMID 20301473)