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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

Variant classification counts according to ACMG guideline on all identified variants among our tested samples are listed. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
10
Likely pathogenic
0
VUS
23,017
Likely benign
5,139
Benign
81

Patient phenotypes

Proportions of phenotypes among 7 patients carring pathogenic or likely pathogenic variants on NDUFA10 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the cardiovascular system
28.6%
Abnormality of the genitourinary system
28.6%
Abnormal cellular phenotype
14.3%
Abnormality of blood and blood-forming tissues
14.3%
Abnormality of head or neck
14.3%
Abnormality of limbs
14.3%
Abnormality of the eye
14.3%
Abnormality of the immune system
14.3%
Abnormality of the musculoskeletal system
14.3%
Abnormality of the nervous system
14.3%
Neoplasm
14.3%
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%

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