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UQCRC2

Synonyms
MC3DN5, QCR2, UQCR2
External resources
Summary
The protein encoded by this gene is located in the mitochondrion, where it is part of the ubiquinol-cytochrome c reductase complex (also known as complex III). This complex constitutes a part of the mitochondrial respiratory chain. Defects in this gene are a cause of mitochondrial complex III deficiency nuclear type 5.

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
5
Likely pathogenic
0
VUS
2,802
Likely benign
445
Benign
0

Patient phenotypes

Proportions of phenotypes among 5 patients carrying pathogenic or likely pathogenic variants on UQCRC2 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of head or neck
60%
Abnormality of the musculoskeletal system
60%
Abnormality of the nervous system
60%
Abnormality of the ear
20%
Abnormality of the eye
20%
Abnormality of the integument
20%
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 cardiovascular system
0%
Abnormality of the digestive system
0%
Abnormality of the endocrine system
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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