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NDUFS3

Synonyms
CI-30, MC1DN8
External resources
Summary
This gene encodes one of the iron-sulfur protein (IP) components of mitochondrial NADH:ubiquinone oxidoreductase (complex I). Mutations in this gene are associated with Leigh syndrome resulting from mitochondrial complex I deficiency.

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
13
Likely pathogenic
12
VUS
7,581
Likely benign
2,325
Benign
0

Patient phenotypes

Proportions of phenotypes among 25 patients carrying pathogenic or likely pathogenic variants on NDUFS3 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the cardiovascular system
36%
Abnormality of the nervous system
28%
Abnormality of the genitourinary system
12%
Abnormality of the musculoskeletal system
12%
Abnormality of blood and blood-forming tissues
8%
Abnormality of head or neck
8%
Abnormal cellular phenotype
4%
Abnormality of the eye
4%
Abnormality of the immune system
4%
Abnormality of limbs
0%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the digestive system
0%
Abnormality of the ear
0%
Abnormality of the endocrine system
0%
Abnormality of the integument
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Growth abnormality
0%
Neoplasm
0%

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