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NDUFA10

Synonyms
CI-42KD, CI-42k, MC1DN22
External resources
Summary
The protein encoded by this gene is a component of 42 kDa complex I, the first enzyme complex in the electron transport chain of mitochondria. This protein has NADH dehydrogenase activity and oxidoreductase activity. It transfers electrons from NADH to the respiratory chain. A mutation in this gene was found in an individual with Leigh syndrome.

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
3
Likely pathogenic
0
VUS
29,085
Likely benign
4,037
Benign
67

Patient phenotypes

Proportions of phenotypes among 3 patients carrying pathogenic or likely pathogenic variants on NDUFA10 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the musculoskeletal system
66.7%
Abnormality of head or neck
33.3%
Abnormality of limbs
33.3%
Abnormality of the ear
33.3%
Abnormality of the integument
33.3%
Abnormality of the nervous system
33.3%
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 cardiovascular system
0%
Abnormality of the digestive system
0%
Abnormality of the endocrine system
0%
Abnormality of the eye
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%
Growth abnormality
0%
Neoplasm
0%

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