H338Q (p.His338Gln) variant of CYBB (NADPH oxidase 2)
H338Q (p.His338Gln) in CYBB (NADPH oxidase 2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Granulomatous disease, chronic, X-linked. The record also includes published literature and structural context.
H338Q (p.His338Gln) variant details
- p.His338Gln
- rs2519208678
- ClinGen CA412977278
- ClinVar RCV003059678
- Pathogenic
- Granulomatous disease, chronic, X-linked
- Missense
- ClinVar: Pathogenic (Granulomatous disease, chronic, X-linked)
- EBI: Pathogenic (in CGDX)
- UniProt: Pathogenic (in CGDX)
- Structural context available
- Cited in: Chronic Granulomatous Disease. (PMID 22876374)