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UQCRB

Synonyms
MC3DN3, QCR7, QP-C, QPC, UQBC, UQBP, UQCR6, UQPC
External resources
Summary
This gene encodes a subunit of the ubiquinol-cytochrome c oxidoreductase complex, which consists of one mitochondrial-encoded and 10 nuclear-encoded subunits. The protein encoded by this gene binds ubiquinone and participates in the transfer of electrons when ubiquinone is bound. This protein plays an important role in hypoxia-induced angiogenesis through mitochondrial reactive oxygen species-mediated signaling. Mutations in this gene are associated with mitochondrial complex III deficiency. Alternatively spliced transcript variants have been found for this gene. Related pseudogenes have been identified on chromosomes 1, 5 and X.

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
40
Likely pathogenic
0
VUS
1,518
Likely benign
1,317
Benign
118

Patient phenotypes

Proportions of phenotypes among 40 patients carrying pathogenic or likely pathogenic variants on UQCRB gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
32.5%
Abnormality of the eye
27.5%
Abnormality of the genitourinary system
17.5%
Abnormality of head or neck
12.5%
Abnormality of the digestive system
12.5%
Abnormality of the ear
10%
Neoplasm
10%
Abnormality of the endocrine system
7.5%
Abnormality of the musculoskeletal system
7.5%
Abnormality of blood and blood-forming tissues
5%
Abnormality of the immune system
5%
Abnormality of the integument
5%
Growth abnormality
5%
Abnormality of limbs
2.5%
Abnormality of the cardiovascular system
2.5%
Constitutional symptom
2.5%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%

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