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NDUFS4

Synonyms
AQDQ, CI-18, CI-18 kDa, CI-AQDQ, MC1DN1
External resources
Summary
This gene encodes an nuclear-encoded accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (complex I, or NADH:ubiquinone oxidoreductase). Complex I removes electrons from NADH and passes them to the electron acceptor ubiquinone. Mutations in this gene can cause mitochondrial complex I deficiencies such as Leigh syndrome. Alternative splicing results in multiple transcript variants.

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
8
Likely pathogenic
1
VUS
1,158
Likely benign
105
Benign
0

Patient phenotypes

Proportions of phenotypes among 9 patients carrying pathogenic or likely pathogenic variants on NDUFS4 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the cardiovascular system
33.3%
Abnormality of the musculoskeletal system
33.3%
Abnormality of the nervous system
33.3%
Abnormality of head or neck
22.2%
Abnormality of limbs
11.1%
Abnormality of the digestive system
11.1%
Abnormality of the eye
11.1%
Abnormality of the integument
11.1%
Growth abnormality
11.1%
Abnormal cellular phenotype
0%
Abnormality of blood and blood-forming tissues
0%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the ear
0%
Abnormality of the endocrine system
0%
Abnormality of the genitourinary system
0%
Abnormality of the immune system
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Neoplasm
0%

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