T42R (p.Thr42Arg) variant of CYBB (NADPH oxidase 2)
T42R (p.Thr42Arg) in CYBB (NADPH oxidase 2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Granulomatous disease, chronic, X-linked. The record also includes published literature and structural context.
T42R (p.Thr42Arg) variant details
- p.Thr42Arg
- rs2519190931
- ClinGen CA412972648
- ClinVar RCV003064693
- Uncertain significance
- Granulomatous disease, chronic, X-linked
- Missense
- ClinVar: Uncertain significance (Granulomatous disease, chronic, X-linked)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Chronic Granulomatous Disease. (PMID 22876374)