C1QB Chromosome 1
Complement C1q B chain
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What This Gene Does
This gene encodes the B-chain polypeptide of serum complement subcomponent C1q, which associates with C1r and C1s to yield the first component of the serum complement system. C1q is composed of 18 polypeptide chains which include 6 A-chains, 6 B-chains, and 6 C-chains. Each chain contains an N-terminal collagen-like region and a C-terminal C1q globular domain. C1q deficiency is associated with lupus erythematosus and glomerulonephritis. [provided by RefSeq, Dec 2016]
Gene Info
Gene Group
"Complement system activation components|C1q domain containing"
Locus Type
gene with protein product
Location
1p36.12
Ensembl
ENSG00000173369
Associated Conditions (3)
Inborn genetic diseases
C1Q deficiency 2
C1Q deficiency
Key Variants
RS147260497
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1480028945
Conflicting classifications of pathogenicity
C1Q deficiency 2, C1Q deficiency 2
Health Risk
RS35477594
Conflicting classifications of pathogenicity
C1Q deficiency, C1Q deficiency 2, C1Q deficiency
Health Risk
RS867527641
Conflicting classifications of pathogenicity
Inborn genetic diseases, C1Q deficiency 2, Inborn genetic diseases
Health Risk
RS945618655
Conflicting classifications of pathogenicity
C1Q deficiency 2, C1Q deficiency 2
Health Risk
RS1064797108
Likely pathogenic
Health Risk
RS34813378
Likely pathogenic
C1Q deficiency, C1Q deficiency
Health Risk
RS751172449
Likely pathogenic
C1Q deficiency 2, C1Q deficiency 2
Health Risk
RS1361922961
Pathogenic
C1Q deficiency 2, C1Q deficiency 2
Health Risk
All Variants (9)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS147260497 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS1480028945 | Health Risk | Conflicting classifications of pathogenicity | C1Q deficiency 2, C1Q deficiency 2 |
| RS35477594 | Health Risk | Conflicting classifications of pathogenicity | C1Q deficiency, C1Q deficiency 2, C1Q deficiency |
| RS867527641 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, C1Q deficiency 2, Inborn genetic diseases |
| RS945618655 | Health Risk | Conflicting classifications of pathogenicity | C1Q deficiency 2, C1Q deficiency 2 |
| RS1064797108 | Health Risk | Likely pathogenic | — |
| RS34813378 | Health Risk | Likely pathogenic | C1Q deficiency, C1Q deficiency |
| RS751172449 | Health Risk | Likely pathogenic | C1Q deficiency 2, C1Q deficiency 2 |
| RS1361922961 | Health Risk | Pathogenic | C1Q deficiency 2, C1Q deficiency 2 |