CYBC1 Chromosome 17
Cytochrome b-245 chaperone 1
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What This Gene Does
Involved in innate immune response and respiratory burst after phagocytosis. Located in endoplasmic reticulum. Implicated in autosomal recessive chronic granulomatous disease 5. [provided by Alliance of Genome Resources, Jul 2025]
Associated Conditions (4)
Granulomatous disease
chronic
autosomal recessive
5
Key Variants
RS538937116
Conflicting classifications of pathogenicity
Health Risk
RS1219458778
Likely pathogenic
Health Risk
RS755219790
Likely pathogenic
Health Risk
RS2510057012
Pathogenic
Health Risk
RS2510077415
Pathogenic
Health Risk
RS778180128
Pathogenic
Granulomatous disease, chronic, autosomal recessive
Health Risk
All Variants (6)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS538937116 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1219458778 | Health Risk | Likely pathogenic | — |
| RS755219790 | Health Risk | Likely pathogenic | — |
| RS2510057012 | Health Risk | Pathogenic | — |
| RS2510077415 | Health Risk | Pathogenic | — |
| RS778180128 | Health Risk | Pathogenic | Granulomatous disease, chronic, autosomal recessive |