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NDUFV3

Synonyms
CI-10k, CI-9KD
External resources
Summary
The protein encoded by this gene is one of at least forty-one subunits that make up the NADH-ubiquinone oxidoreductase complex. This complex is part of the mitochondrial respiratory chain and serves to catalyze the rotenone-sensitive oxidation of NADH and the reduction of ubiquinone. The encoded protein is one of three proteins found in the flavoprotein fraction of the complex. The specific function of the encoded protein is unknown. Two transcript variants encoding different isoforms have been found for this gene.

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
38
Likely pathogenic
1
VUS
2,102
Likely benign
153
Benign
0

Patient Phenotypes

Proportions of phenotypes among 39 patients carrying pathogenic or likely pathogenic variants on NDUFV3 gene are displayed below. The following symptoms were found in patients with a variant in NDUFV3. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
41%
Abnormality of the eye
35.9%
Abnormality of the musculoskeletal system
30.8%
Abnormality of the digestive system
28.2%
Neoplasm
17.9%
Abnormality of head or neck
15.4%
Abnormality of the endocrine system
10.3%
Abnormality of the integument
10.3%
Growth abnormality
10.3%
Abnormality of blood and blood forming tissues
7.7%
Abnormality of limbs
7.7%
Abnormality of the cardiovascular system
7.7%
Abnormality of the ear
7.7%
Abnormality of the genitourinary system
7.7%
Abnormality of metabolism homeostasis
2.6%
Abnormality of prenatal development or birth
2.6%
Abnormality of the immune system
2.6%
Abnormality of the respiratory system
2.6%
Constitutional symptom
2.6%
Abnormal cellular phenotype
0%
Abnormality of the breast
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%

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