NCF1 Chromosome 7
Neutrophil cytosolic factor 1
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What This Gene Does
The protein encoded by this gene is a 47 kDa cytosolic subunit of neutrophil NADPH oxidase. This oxidase is a multicomponent enzyme that is activated to produce superoxide anion. Mutations in this gene have been associated with chronic granulomatous disease. [provided by RefSeq, Jul 2008]
Associated Conditions (8)
Granulomatous disease
chronic
autosomal recessive
cytochrome b-positive
type 1
Hypertrophic cardiomyopathy 4
X-linked
Chronic granulomatous disease
Key Variants
RS144018361
Conflicting classifications of pathogenicity
Granulomatous disease, chronic, autosomal recessive
Health Risk
RS1584370623
Likely pathogenic
Granulomatous disease, chronic, autosomal recessive
Health Risk
RS1057519503
Pathogenic
Hypertrophic cardiomyopathy 4, Hypertrophic cardiomyopathy 4
Health Risk
RS119103270
Pathogenic
Granulomatous disease, chronic, autosomal recessive
Health Risk
RS119103271
Pathogenic
Granulomatous disease, chronic, autosomal recessive
Health Risk
RS119103272
Pathogenic
Granulomatous disease, chronic, autosomal recessive
Health Risk
RS119103273
Pathogenic
Granulomatous disease, chronic, autosomal recessive
Health Risk
RS1307080411
Pathogenic
Granulomatous disease, chronic, autosomal recessive
Health Risk
RS1563003964
Pathogenic
Granulomatous disease, chronic, autosomal recessive
Health Risk
RS4029402
Pathogenic
Granulomatous disease, chronic, autosomal recessive
Health Risk
RS782800778
Pathogenic
Granulomatous disease, chronic, autosomal recessive
Health Risk
RS886041799
Pathogenic
Health Risk
All Variants (13)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS144018361 | Health Risk | Conflicting classifications of pathogenicity | Granulomatous disease, chronic, autosomal recessive |
| RS1584370623 | Health Risk | Likely pathogenic | Granulomatous disease, chronic, autosomal recessive |
| RS1057519503 | Health Risk | Pathogenic | Hypertrophic cardiomyopathy 4, Hypertrophic cardiomyopathy 4 |
| RS119103270 | Health Risk | Pathogenic | Granulomatous disease, chronic, autosomal recessive |
| RS119103271 | Health Risk | Pathogenic | Granulomatous disease, chronic, autosomal recessive |
| RS119103272 | Health Risk | Pathogenic | Granulomatous disease, chronic, autosomal recessive |
| RS119103273 | Health Risk | Pathogenic | Granulomatous disease, chronic, autosomal recessive |
| RS1307080411 | Health Risk | Pathogenic | Granulomatous disease, chronic, autosomal recessive |
| RS1563003964 | Health Risk | Pathogenic | Granulomatous disease, chronic, autosomal recessive |
| RS4029402 | Health Risk | Pathogenic | Granulomatous disease, chronic, autosomal recessive |
| RS782800778 | Health Risk | Pathogenic | Granulomatous disease, chronic, autosomal recessive |
| RS886041799 | Health Risk | Pathogenic | — |
| RS145360423 | Health Risk | Pathogenic/Likely pathogenic | Granulomatous disease, chronic, autosomal recessive |