UQCRQ Chromosome 5
Ubiquinol-cytochrome c reductase complex III subunit VII
Upload your DNA to see your personal genotypes for variants in UQCRQ.
What This Gene Does
This gene encodes a ubiquinone-binding protein of low molecular mass. This protein is a small core-associated protein and a subunit of ubiquinol-cytochrome c reductase complex III, which is part of the mitochondrial respiratory chain. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Mitochondrial complex III: ubiquinol-cytochrome c reductase complex subunits
Locus Type
gene with protein product
Location
5q31.1
Ensembl
ENSG00000164405
Associated Conditions (2)
Mitochondrial complex III deficiency nuclear type 4
UQCRQ-related disorder
Key Variants
RS11544803
Conflicting classifications of pathogenicity
Mitochondrial complex III deficiency nuclear type 4, Mitochondrial complex III deficiency nuclear type 4
Health Risk
RS116229809
Conflicting classifications of pathogenicity
Mitochondrial complex III deficiency nuclear type 4, Mitochondrial complex III deficiency nuclear type 4
Health Risk
RS137995316
Conflicting classifications of pathogenicity
Mitochondrial complex III deficiency nuclear type 4, UQCRQ-related disorder, Mitochondrial complex III deficiency nuclear type 4
Health Risk
RS146307558
Conflicting classifications of pathogenicity
Mitochondrial complex III deficiency nuclear type 4, Mitochondrial complex III deficiency nuclear type 4
Health Risk
RS150139635
Conflicting classifications of pathogenicity
Mitochondrial complex III deficiency nuclear type 4, UQCRQ-related disorder, Mitochondrial complex III deficiency nuclear type 4
Health Risk
RS185184076
Conflicting classifications of pathogenicity
Mitochondrial complex III deficiency nuclear type 4, Mitochondrial complex III deficiency nuclear type 4
Health Risk
RS36093416
Conflicting classifications of pathogenicity
Mitochondrial complex III deficiency nuclear type 4, Mitochondrial complex III deficiency nuclear type 4
Health Risk
RS369119794
Conflicting classifications of pathogenicity
Mitochondrial complex III deficiency nuclear type 4, Mitochondrial complex III deficiency nuclear type 4
Health Risk
RS768723651
Conflicting classifications of pathogenicity
Mitochondrial complex III deficiency nuclear type 4, Mitochondrial complex III deficiency nuclear type 4
Health Risk
RS863224260
Conflicting classifications of pathogenicity
Health Risk
All Variants (10)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS11544803 | Health Risk | Conflicting classifications of pathogenicity | Mitochondrial complex III deficiency nuclear type 4, Mitochondrial complex III deficiency nuclear type 4 |
| RS116229809 | Health Risk | Conflicting classifications of pathogenicity | Mitochondrial complex III deficiency nuclear type 4, Mitochondrial complex III deficiency nuclear type 4 |
| RS137995316 | Health Risk | Conflicting classifications of pathogenicity | Mitochondrial complex III deficiency nuclear type 4, UQCRQ-related disorder, Mitochondrial complex III deficiency nuclear type 4 |
| RS146307558 | Health Risk | Conflicting classifications of pathogenicity | Mitochondrial complex III deficiency nuclear type 4, Mitochondrial complex III deficiency nuclear type 4 |
| RS150139635 | Health Risk | Conflicting classifications of pathogenicity | Mitochondrial complex III deficiency nuclear type 4, UQCRQ-related disorder, Mitochondrial complex III deficiency nuclear type 4 |
| RS185184076 | Health Risk | Conflicting classifications of pathogenicity | Mitochondrial complex III deficiency nuclear type 4, Mitochondrial complex III deficiency nuclear type 4 |
| RS36093416 | Health Risk | Conflicting classifications of pathogenicity | Mitochondrial complex III deficiency nuclear type 4, Mitochondrial complex III deficiency nuclear type 4 |
| RS369119794 | Health Risk | Conflicting classifications of pathogenicity | Mitochondrial complex III deficiency nuclear type 4, Mitochondrial complex III deficiency nuclear type 4 |
| RS768723651 | Health Risk | Conflicting classifications of pathogenicity | Mitochondrial complex III deficiency nuclear type 4, Mitochondrial complex III deficiency nuclear type 4 |
| RS863224260 | Health Risk | Conflicting classifications of pathogenicity | — |