R73* (p.Arg73Ter) variant of CYBB (NADPH oxidase 2)
R73* (p.Arg73Ter) 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.
R73* (p.Arg73Ter) variant details
- p.Arg73Ter
- rs137854588
- ClinGen CA121236
- NCI-TCGA Cosmic COSV6608
- ClinVar RCV000011670
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Point mutations in the beta-subunit of cytochrome b558 leading to X-linked chronic granulomatous disease. (PMID 1710153)
- Cited in: Chronic Granulomatous Disease. (PMID 22876374)