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NCF1

Synonyms
CGD1, NCF1A, NOXO2, SH3PXD1A, p47phox
External resources
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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