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NDUFV2

Synonyms
CI-24k, MC1DN7
External resources
Summary
The NADH-ubiquinone oxidoreductase complex (complex I) of the mitochondrial respiratory chain catalyzes the transfer of electrons from NADH to ubiquinone, and consists of at least 43 subunits. The complex is located in the inner mitochondrial membrane. This gene encodes the 24 kDa subunit of complex I, and is involved in electron transfer. Mutations in this gene are implicated in Parkinson's disease, bipolar disorder, schizophrenia, and have been found in one case of early onset hypertrophic cardiomyopathy and encephalopathy. A non-transcribed pseudogene of this locus is found on chromosome 19.

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
17
Likely pathogenic
0
VUS
1,879
Likely benign
113
Benign
0

Patient Phenotypes

Proportions of phenotypes among 17 patients carrying pathogenic or likely pathogenic variants on NDUFV2 gene are displayed below. The following symptoms were found in patients with a variant in NDUFV2. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of head or neck
29.4%
Abnormality of the nervous system
29.4%
Abnormality of the ear
23.5%
Abnormality of the cardiovascular system
17.6%
Abnormality of the musculoskeletal system
17.6%
Abnormality of the digestive system
11.8%
Abnormality of the genitourinary system
11.8%
Growth abnormality
11.8%
Abnormality of the eye
5.9%
Constitutional symptom
5.9%
Abnormal cellular phenotype
0%
Abnormality of blood and blood forming tissues
0%
Abnormality of limbs
0%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the endocrine system
0%
Abnormality of the immune system
0%
Abnormality of the integument
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Neoplasm
0%

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