W18C (p.Trp18Cys) variant of CYBB (NADPH oxidase 2)
W18C (p.Trp18Cys) in CYBB (NADPH oxidase 2) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in CGDX. The record also includes published literature and structural context.
W18C (p.Trp18Cys) variant details
- p.Trp18Cys
- UniProt VAR 047264
- Pathogenic
- in CGDX
- Missense
- EBI: Pathogenic (in CGDX)
- UniProt: Pathogenic (in CGDX)
- Structural context available
- Cited in: Hematologically important mutations: X-linked chronic granulomatous disease (second update). (PMID 11162142)
- Cited in: Uncommon missense and splice mutations and resulting biochemical phenotypes in German patients with X-linked chronic… (PMID 10089913)