Home > Gene Browser > NCF1
NCF1
- Synonyms
- CGD1, NCF1A, NOXO2, SH3PXD1A, p47phox
- External resources
- NCBI653361
- OMIM608512
- EnsemblENSG00000158517
- HGNCHGNC:7660
- Summary
- 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.
Variant counts
The variants found in rare patients tested by 3billion are classified and counted according to ACMG guidelines. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.
- Pathogenic
- 47
- Likely pathogenic
- 0
- VUS
- 2,353
- Likely benign
- 25,083
- Benign
- 38
Patient phenotypes
Proportions of phenotypes among 47 patients carrying pathogenic or likely pathogenic variants on NCF1 gene are displayed below.
- Phenotype class
- Patients in 3billion (%)
- Abnormality of the eye
- 38.3%
- Abnormality of the nervous system
- 36.2%
- Abnormality of the musculoskeletal system
- 19.1%
- Abnormality of head or neck
- 14.9%
- Abnormality of the genitourinary system
- 14.9%
- Abnormality of prenatal development or birth
- 6.4%
- Abnormality of the endocrine system
- 6.4%
- Growth abnormality
- 6.4%
- Abnormality of the digestive system
- 4.3%
- Abnormality of the ear
- 4.3%
- Abnormality of the integument
- 4.3%
- Abnormality of blood and blood-forming tissues
- 2.1%
- Abnormality of limbs
- 2.1%
- Abnormality of the immune system
- 2.1%
- Abnormality of the respiratory system
- 2.1%
- Abnormal cellular phenotype
- 0%
- Abnormality of metabolism homeostasis
- 0%
- Abnormality of the breast
- 0%
- Abnormality of the cardiovascular system
- 0%
- Abnormality of the thoracic cavity
- 0%
- Abnormality of the voice
- 0%
- Constitutional symptom
- 0%
- Neoplasm
- 0%
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