C1R Chromosome 12
Complement C1r
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What This Gene Does
This gene encodes a member of the peptidase S1 protein family. The encoded protein is a proteolytic subunit in the complement system C1 complex. The complement system acts as a mediator in the innate immune response by ultimately triggering phagocytosis, inflammation, and rupturing the bacterial cell wall. Mutations in this gene are associated with Ehlers-Danlos Syndrome. [provided by RefSeq, Dec 2018]
Gene Info
Gene Group
"Sushi domain containing|Complement system activation components"
Locus Type
gene with protein product
Location
12p13.31
Ensembl
ENSG00000159403
Associated Conditions (5)
Ehlers-Danlos syndrome
periodontal type 1
Vascular dementia
C1R-related disorder
periodontal type 2
Key Variants
RS139531404
Conflicting classifications of pathogenicity
Ehlers-Danlos syndrome, periodontal type 1, Vascular dementia
Health Risk
RS200185988
Conflicting classifications of pathogenicity
Ehlers-Danlos syndrome, periodontal type 1, Ehlers-Danlos syndrome
Health Risk
RS200539827
Conflicting classifications of pathogenicity
Ehlers-Danlos syndrome, periodontal type 1, C1R-related disorder
Health Risk
RS200899486
Conflicting classifications of pathogenicity
C1R-related disorder, C1R-related disorder
Health Risk
RS367700816
Conflicting classifications of pathogenicity
Ehlers-Danlos syndrome, periodontal type 1, Ehlers-Danlos syndrome
Health Risk
RS373462345
Conflicting classifications of pathogenicity
Ehlers-Danlos syndrome, periodontal type 1, Ehlers-Danlos syndrome
Health Risk
RS1057518645
Likely pathogenic
Ehlers-Danlos syndrome, periodontal type 1, periodontal type 2
Health Risk
RS1555164437
Likely pathogenic
Health Risk
RS1938242419
Likely pathogenic
Ehlers-Danlos syndrome, Ehlers-Danlos syndrome
Health Risk
RS1057515579
Pathogenic
Ehlers-Danlos syndrome, periodontal type 1, periodontal type 2
Health Risk
RS1057518643
Pathogenic
Ehlers-Danlos syndrome, periodontal type 1, periodontal type 2
Health Risk
RS1057518646
Pathogenic
Ehlers-Danlos syndrome, periodontal type 1, periodontal type 2
Health Risk
All Variants (22)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS139531404 | Health Risk | Conflicting classifications of pathogenicity | Ehlers-Danlos syndrome, periodontal type 1, Vascular dementia |
| RS200185988 | Health Risk | Conflicting classifications of pathogenicity | Ehlers-Danlos syndrome, periodontal type 1, Ehlers-Danlos syndrome |
| RS200539827 | Health Risk | Conflicting classifications of pathogenicity | Ehlers-Danlos syndrome, periodontal type 1, C1R-related disorder |
| RS200899486 | Health Risk | Conflicting classifications of pathogenicity | C1R-related disorder, C1R-related disorder |
| RS367700816 | Health Risk | Conflicting classifications of pathogenicity | Ehlers-Danlos syndrome, periodontal type 1, Ehlers-Danlos syndrome |
| RS373462345 | Health Risk | Conflicting classifications of pathogenicity | Ehlers-Danlos syndrome, periodontal type 1, Ehlers-Danlos syndrome |
| RS1057518645 | Health Risk | Likely pathogenic | Ehlers-Danlos syndrome, periodontal type 1, periodontal type 2 |
| RS1555164437 | Health Risk | Likely pathogenic | — |
| RS1938242419 | Health Risk | Likely pathogenic | Ehlers-Danlos syndrome, Ehlers-Danlos syndrome |
| RS1057515579 | Health Risk | Pathogenic | Ehlers-Danlos syndrome, periodontal type 1, periodontal type 2 |
| RS1057518643 | Health Risk | Pathogenic | Ehlers-Danlos syndrome, periodontal type 1, periodontal type 2 |
| RS1057518646 | Health Risk | Pathogenic | Ehlers-Danlos syndrome, periodontal type 1, periodontal type 2 |
| RS1057519025 | Health Risk | Pathogenic | Ehlers-Danlos syndrome, periodontal type 1, periodontal type 2 |
| RS1057519576 | Health Risk | Pathogenic | Ehlers-Danlos syndrome, periodontal type 1, periodontal type 2 |
| RS1057519577 | Health Risk | Pathogenic | Ehlers-Danlos syndrome, periodontal type 1, periodontal type 2 |
| RS1057519578 | Health Risk | Pathogenic | Ehlers-Danlos syndrome, periodontal type 1, periodontal type 2 |
| RS1057519579 | Health Risk | Pathogenic | Ehlers-Danlos syndrome, periodontal type 1, periodontal type 2 |
| RS1057519580 | Health Risk | Pathogenic | Ehlers-Danlos syndrome, periodontal type 1, periodontal type 2 |
| RS1060499554 | Health Risk | Pathogenic | Ehlers-Danlos syndrome, periodontal type 1, periodontal type 2 |
| RS1938056582 | Health Risk | Pathogenic | Ehlers-Danlos syndrome, periodontal type 1, Ehlers-Danlos syndrome |
| RS760277934 | Health Risk | Pathogenic | Ehlers-Danlos syndrome, periodontal type 1, periodontal type 2 |
| RS769707492 | Health Risk | Pathogenic | Ehlers-Danlos syndrome, periodontal type 1, periodontal type 2 |