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 |
|---|---|---|---|
| RS587779635 | Health Risk | Pathogenic/Likely pathogenic | Ehlers-Danlos syndrome, type 4, Ehlers-Danlos syndrome |
| RS587779646 | Health Risk | Pathogenic/Likely pathogenic | Ehlers-Danlos syndrome, type 4, Familial thoracic aortic aneurysm and aortic dissection |
| RS587779650 | Health Risk | Pathogenic/Likely pathogenic | Ehlers-Danlos syndrome, type 4, Familial thoracic aortic aneurysm and aortic dissection |
| RS587779662 | Health Risk | Pathogenic/Likely pathogenic | Ehlers-Danlos syndrome, type 4, Familial thoracic aortic aneurysm and aortic dissection |
| RS587779673 | Health Risk | Pathogenic/Likely pathogenic | Ehlers-Danlos syndrome, type 4, Ehlers-Danlos syndrome |
| RS587779691 | Health Risk | Pathogenic/Likely pathogenic | Ehlers-Danlos syndrome, type 4, Familial thoracic aortic aneurysm and aortic dissection |
| RS587779692 | Health Risk | Pathogenic/Likely pathogenic | Ehlers-Danlos syndrome, type 4, Familial thoracic aortic aneurysm and aortic dissection |
| RS587779705 | Health Risk | Pathogenic/Likely pathogenic | Ehlers-Danlos syndrome, type 4, Ehlers-Danlos syndrome |
| RS587779706 | Health Risk | Pathogenic/Likely pathogenic | Ehlers-Danlos syndrome, type 4, Familial thoracic aortic aneurysm and aortic dissection |
| RS587779709 | Health Risk | Pathogenic/Likely pathogenic | Ehlers-Danlos syndrome, type 4, Ehlers-Danlos syndrome |
| RS587779715 | Health Risk | Pathogenic/Likely pathogenic | Ehlers-Danlos syndrome, type 4, COL3A1-related disorder |
| RS755528878 | Health Risk | Pathogenic/Likely pathogenic | Ehlers-Danlos syndrome, type 4, Familial thoracic aortic aneurysm and aortic dissection |
| RS771791598 | Health Risk | Pathogenic/Likely pathogenic | Ehlers-Danlos syndrome, type 4, Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome |
| RS772827388 | Health Risk | Pathogenic/Likely pathogenic | Ehlers-Danlos syndrome, type 4, Familial aortopathy |
| RS794728040 | Health Risk | Pathogenic/Likely pathogenic | Ehlers-Danlos syndrome, type 4, Familial thoracic aortic aneurysm and aortic dissection |
| RS794728054 | Health Risk | Pathogenic/Likely pathogenic | Ehlers-Danlos syndrome, type 4, Familial thoracic aortic aneurysm and aortic dissection |
| RS794728060 | Health Risk | Pathogenic/Likely pathogenic | Ehlers-Danlos syndrome, type 4, Familial aortopathy |
| RS869312034 | Health Risk | Pathogenic/Likely pathogenic | Ehlers-Danlos syndrome, type 4, Familial thoracic aortic aneurysm and aortic dissection |
| RS886038892 | Health Risk | Pathogenic/Likely pathogenic | Cardiovascular phenotype, See cases, Ehlers-Danlos syndrome |