E30* (p.Glu30Ter) variant of NPC1 (O15118)
E30* (p.Glu30Ter) in NPC1 (O15118) 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.
E30* (p.Glu30Ter) variant details
- p.Glu30Ter
- rs2059233326
- ClinGen CA402041378
- ClinVar RCV001263846
- Ensembl rs2059233326
- Likely pathogenic
- Stop Gained
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Niemann-Pick Disease Type C. (PMID 20301473)