COL3A1 Chromosome 2
Collagen type III alpha 1 chain
Upload your DNA to see your personal genotypes for variants in COL3A1.
What This Gene Does
This gene encodes the pro-alpha1 chains of type III collagen, a fibrillar collagen that is found in extensible connective tissues such as skin, lung, uterus, intestine and the vascular system, frequently in association with type I collagen. Mutations in this gene are associated with Ehlers-Danlos syndrome type IV, and with aortic and arterial aneurysms. [provided by R. Dalgleish, Feb 2008]
Gene Info
Gene Group
"MicroRNA protein coding host genes|Fibrillar collagens"
Locus Type
gene with protein product
Location
2q32.2
Ensembl
ENSG00000168542
Associated Conditions (36)
Familial thoracic aortic aneurysm and aortic dissection
Ehlers-Danlos syndrome
type 4
Aortic aneurysm
Connective tissue disorder
COL3A1-related disorder
Loeys-Dietz syndrome
Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome
Ovarian serous cystadenocarcinoma
type 3
Hepatocellular carcinoma
Ovarian cancer
See cases
Melanoma
Lung cancer
Cardiovascular phenotype
Familial aortopathy
POLYMICROGYRIA WITHOUT VASCULAR-TYPE EHLERS-DANLOS SYNDROME
Aortic dissection
Hereditary spastic paraplegia 4
+16 more conditions
Key Variants
RS10186160
Conflicting classifications of pathogenicity
Familial thoracic aortic aneurysm and aortic dissection, Ehlers-Danlos syndrome, type 4
Health Risk
RS1045459966
Conflicting classifications of pathogenicity
Ehlers-Danlos syndrome, type 4, Ehlers-Danlos syndrome
Health Risk
RS1060500195
Conflicting classifications of pathogenicity
Ehlers-Danlos syndrome, type 4, Familial thoracic aortic aneurysm and aortic dissection
Health Risk
RS111391222
Conflicting classifications of pathogenicity
Aortic aneurysm, Ehlers-Danlos syndrome, type 4
Health Risk
RS111567071
Conflicting classifications of pathogenicity
Ehlers-Danlos syndrome, type 4, Connective tissue disorder
Health Risk
RS111840783
Conflicting classifications of pathogenicity
Ehlers-Danlos syndrome, type 4, Loeys-Dietz syndrome
Health Risk
RS112371422
Conflicting classifications of pathogenicity
Ehlers-Danlos syndrome, type 4, Familial thoracic aortic aneurysm and aortic dissection
Health Risk
RS113304344
Conflicting classifications of pathogenicity
Ehlers-Danlos syndrome, type 4, Familial thoracic aortic aneurysm and aortic dissection
Health Risk
RS1163013218
Conflicting classifications of pathogenicity
Ehlers-Danlos syndrome, type 4, Ehlers-Danlos syndrome
Health Risk
RS1229792348
Conflicting classifications of pathogenicity
Ehlers-Danlos syndrome, type 4, Familial thoracic aortic aneurysm and aortic dissection
Health Risk
RS1283050088
Conflicting classifications of pathogenicity
Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome, Ehlers-Danlos syndrome, type 4
Health Risk
RS1310461523
Conflicting classifications of pathogenicity
Ehlers-Danlos syndrome, type 4, Ehlers-Danlos syndrome
Health Risk
All Variants (819)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS587779570 | Health Risk | Pathogenic | Ehlers-Danlos syndrome, type 4, Ehlers-Danlos syndrome |
| RS587779571 | Health Risk | Pathogenic | Ehlers-Danlos syndrome, type 4, Ehlers-Danlos syndrome |
| RS587779572 | Health Risk | Pathogenic | Ehlers-Danlos syndrome, type 4, Ehlers-Danlos syndrome |
| RS587779574 | Health Risk | Pathogenic | Ehlers-Danlos syndrome, type 4, Ehlers-Danlos syndrome |
| RS587779576 | Health Risk | Pathogenic | Ehlers-Danlos syndrome, type 4, Ehlers-Danlos syndrome |
| RS587779577 | Health Risk | Pathogenic | Ehlers-Danlos syndrome, type 4, Ehlers-Danlos syndrome |
| RS587779579 | Health Risk | Pathogenic | Ehlers-Danlos syndrome, type 4, Ehlers-Danlos syndrome |
| RS587779580 | Health Risk | Pathogenic | Ehlers-Danlos syndrome, type 4, Ehlers-Danlos syndrome |
| RS587779581 | Health Risk | Pathogenic | Ehlers-Danlos syndrome, type 4, Ehlers-Danlos syndrome |
| RS587779590 | Health Risk | Pathogenic | Ehlers-Danlos syndrome, type 4, Ehlers-Danlos syndrome |
| RS587779591 | Health Risk | Pathogenic | Ehlers-Danlos syndrome, type 4, Ehlers-Danlos syndrome |
| RS587779592 | Health Risk | Pathogenic | Ehlers-Danlos syndrome, type 4, Ehlers-Danlos syndrome |
| RS587779593 | Health Risk | Pathogenic | Ehlers-Danlos syndrome, type 4, COL3A1-related disorder |
| RS587779594 | Health Risk | Pathogenic | Ehlers-Danlos syndrome, type 4, Ehlers-Danlos syndrome |
| RS587779595 | Health Risk | Pathogenic | Ehlers-Danlos syndrome, type 4, Seizure |
| RS587779600 | Health Risk | Pathogenic | Ehlers-Danlos syndrome, type 4, COL3A1-related disorder |
| RS587779601 | Health Risk | Pathogenic | Ehlers-Danlos syndrome, type 4, Ehlers-Danlos syndrome |
| RS587779602 | Health Risk | Pathogenic | Ehlers-Danlos syndrome, type 4, Ehlers-Danlos syndrome |
| RS587779603 | Health Risk | Pathogenic | Ehlers-Danlos syndrome, type 4, Ovarian serous cystadenocarcinoma |
| RS587779605 | Health Risk | Pathogenic | Ehlers-Danlos syndrome, type 4, Ehlers-Danlos syndrome |
| RS587779607 | Health Risk | Pathogenic | Ehlers-Danlos syndrome, type 4, Ehlers-Danlos syndrome |
| RS587779608 | Health Risk | Pathogenic | Ehlers-Danlos syndrome, type 4, Ehlers-Danlos syndrome |
| RS587779609 | Health Risk | Pathogenic | Ehlers-Danlos syndrome, type 4, Familial thoracic aortic aneurysm and aortic dissection |
| RS587779610 | Health Risk | Pathogenic | Ehlers-Danlos syndrome, type 4, Ehlers-Danlos syndrome |
| RS587779611 | Health Risk | Pathogenic | Ehlers-Danlos syndrome, type 4, Ehlers-Danlos syndrome |
| RS587779612 | Health Risk | Pathogenic | Ehlers-Danlos syndrome, type 4, Ehlers-Danlos syndrome |
| RS587779614 | Health Risk | Pathogenic | Ehlers-Danlos syndrome, type 4, Ehlers-Danlos syndrome |
| RS587779615 | Health Risk | Pathogenic | Ehlers-Danlos syndrome, type 4, Ehlers-Danlos syndrome |
| RS587779616 | Health Risk | Pathogenic | Ehlers-Danlos syndrome, type 4, Ehlers-Danlos syndrome |
| RS587779617 | Health Risk | Pathogenic | Ehlers-Danlos syndrome, type 4, Ehlers-Danlos syndrome |
| RS587779618 | Health Risk | Pathogenic | Ehlers-Danlos syndrome, type 4, Ehlers-Danlos syndrome |
| RS587779619 | Health Risk | Pathogenic | Ehlers-Danlos syndrome, type 4, Ehlers-Danlos syndrome |
| RS587779621 | Health Risk | Pathogenic | Ehlers-Danlos syndrome, type 4, Ehlers-Danlos syndrome |
| RS587779622 | Health Risk | Pathogenic | Ehlers-Danlos syndrome, type 4, Ehlers-Danlos syndrome |
| RS587779624 | Health Risk | Pathogenic | Ehlers-Danlos syndrome, type 4, Ehlers-Danlos syndrome |
| RS587779625 | Health Risk | Pathogenic | Ehlers-Danlos syndrome, type 4, Familial thoracic aortic aneurysm and aortic dissection |
| RS587779628 | Health Risk | Pathogenic | Ehlers-Danlos syndrome, type 4, Ehlers-Danlos syndrome |
| RS587779629 | Health Risk | Pathogenic | Ehlers-Danlos syndrome, type 4, Ehlers-Danlos syndrome |
| RS587779630 | Health Risk | Pathogenic | Ehlers-Danlos syndrome, type 4, Ehlers-Danlos syndrome |
| RS587779632 | Health Risk | Pathogenic | Ehlers-Danlos syndrome, type 4, Ehlers-Danlos syndrome |
| RS587779634 | Health Risk | Pathogenic | Ehlers-Danlos syndrome, type 4, Ehlers-Danlos syndrome |
| RS587779638 | Health Risk | Pathogenic | Ehlers-Danlos syndrome, type 4, Ehlers-Danlos syndrome |
| RS587779643 | Health Risk | Pathogenic | Ehlers-Danlos syndrome, type 4, Ehlers-Danlos syndrome |
| RS587779645 | Health Risk | Pathogenic | Ehlers-Danlos syndrome, type 4, Ehlers-Danlos syndrome |
| RS587779647 | Health Risk | Pathogenic | Ehlers-Danlos syndrome, type 4, Ehlers-Danlos syndrome |
| RS587779648 | Health Risk | Pathogenic | Ehlers-Danlos syndrome, type 4, Ehlers-Danlos syndrome |
| RS587779649 | Health Risk | Pathogenic | Ehlers-Danlos syndrome, type 4, Ehlers-Danlos syndrome |
| RS587779651 | Health Risk | Pathogenic | Ehlers-Danlos syndrome, type 4, Ehlers-Danlos syndrome |
| RS587779652 | Health Risk | Pathogenic | Ehlers-Danlos syndrome, type 4, COL3A1-related disorder |
| RS587779653 | Health Risk | Pathogenic | Ehlers-Danlos syndrome, type 4, Ehlers-Danlos syndrome |