W4* (p.Trp4Ter) variant of CYBB (NADPH oxidase 2)
W4* (p.Trp4Ter) in CYBB (NADPH oxidase 2) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes published literature and structural context.
W4* (p.Trp4Ter) variant details
- p.Trp4Ter
- rs2146801959
- ClinGen CA412971921
- ClinVar RCV001916148
- Ensembl rs2146801959
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Chronic Granulomatous Disease. (PMID 22876374)