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 |
|---|---|---|---|
| RS2153502051 | Health Risk | Pathogenic | Ehlers-Danlos syndrome, type 4, Ehlers-Danlos syndrome |
| RS2153502163 | Health Risk | Pathogenic | Ehlers-Danlos syndrome, type 4, Ehlers-Danlos syndrome |
| RS2153502348 | Health Risk | Pathogenic | — |
| RS2153502552 | Health Risk | Pathogenic | Ehlers-Danlos syndrome, type 4, Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome |
| RS2153502611 | Health Risk | Pathogenic | Ehlers-Danlos syndrome, type 4, Ehlers-Danlos syndrome |
| RS2153502995 | Health Risk | Pathogenic | Ehlers-Danlos syndrome, type 4, Ehlers-Danlos syndrome |
| RS2153503006 | Health Risk | Pathogenic | Ehlers-Danlos syndrome, type 4, Ehlers-Danlos syndrome |
| RS2153503381 | Health Risk | Pathogenic | Ehlers-Danlos syndrome, type 4, Ehlers-Danlos syndrome |
| RS2153503632 | Health Risk | Pathogenic | Ehlers-Danlos syndrome, type 4, Ehlers-Danlos syndrome |
| RS2153503888 | Health Risk | Pathogenic | Ehlers-Danlos syndrome, type 4, Ehlers-Danlos syndrome |
| RS2153503895 | Health Risk | Pathogenic | Ehlers-Danlos syndrome, type 4, Ehlers-Danlos syndrome |
| RS2153503975 | Health Risk | Pathogenic | Ehlers-Danlos syndrome, type 4, Familial thoracic aortic aneurysm and aortic dissection |
| RS2153504329 | Health Risk | Pathogenic | — |
| RS2469084903 | Health Risk | Pathogenic | Ehlers-Danlos syndrome, type 4, Ehlers-Danlos syndrome |
| RS2469111486 | Health Risk | Pathogenic | Ehlers-Danlos syndrome, type 4, Ehlers-Danlos syndrome |
| RS2469113465 | Health Risk | Pathogenic | See cases, See cases |
| RS2469116583 | Health Risk | Pathogenic | Ehlers-Danlos syndrome, type 4, Ehlers-Danlos syndrome |
| RS2469117990 | Health Risk | Pathogenic | Ehlers-Danlos syndrome, type 4, Familial aortopathy |
| RS2469125950 | Health Risk | Pathogenic | Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection |
| RS2469129452 | Health Risk | Pathogenic | Familial thoracic aortic aneurysm and aortic dissection, Ehlers-Danlos syndrome, type 4 |
| RS2469130264 | Health Risk | Pathogenic | Ehlers-Danlos syndrome, type 4, Ehlers-Danlos syndrome |
| RS2469139432 | Health Risk | Pathogenic | Ehlers-Danlos syndrome, type 4, Ehlers-Danlos syndrome |
| RS2469144147 | Health Risk | Pathogenic | Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection |
| RS2469149355 | Health Risk | Pathogenic | Ehlers-Danlos syndrome, type 4, Familial thoracic aortic aneurysm and aortic dissection |
| RS2469152222 | Health Risk | Pathogenic | — |
| RS2469153717 | Health Risk | Pathogenic | Ehlers-Danlos syndrome, type 4, Ehlers-Danlos syndrome |
| RS2469154239 | Health Risk | Pathogenic | Ehlers-Danlos syndrome, type 4, Ehlers-Danlos syndrome |
| RS2469159535 | Health Risk | Pathogenic | — |
| RS2469163132 | Health Risk | Pathogenic | Ehlers-Danlos syndrome, type 4, Ehlers-Danlos syndrome |
| RS2469163629 | Health Risk | Pathogenic | Ehlers-Danlos syndrome, type 4, Familial thoracic aortic aneurysm and aortic dissection |
| RS2469166242 | Health Risk | Pathogenic | Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection |
| RS2469166555 | Health Risk | Pathogenic | Ehlers-Danlos syndrome, type 4, Ehlers-Danlos syndrome |
| RS2469169214 | Health Risk | Pathogenic | Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection |
| RS2469169298 | Health Risk | Pathogenic | Ehlers-Danlos syndrome, type 4, Ehlers-Danlos syndrome |
| RS2469170821 | Health Risk | Pathogenic | Ehlers-Danlos syndrome, type 4, Ehlers-Danlos syndrome |
| RS2469172612 | Health Risk | Pathogenic | Ehlers-Danlos syndrome, type 4, Ehlers-Danlos syndrome |
| RS267599120 | Health Risk | Pathogenic | Ehlers-Danlos syndrome, type 4, Ehlers-Danlos syndrome |
| RS267599125 | Health Risk | Pathogenic | Ehlers-Danlos syndrome, type 4, Familial thoracic aortic aneurysm and aortic dissection |
| RS375737772 | Health Risk | Pathogenic | Ehlers-Danlos syndrome, type 4, Familial thoracic aortic aneurysm and aortic dissection |
| RS387906557 | Health Risk | Pathogenic | Ehlers-Danlos syndrome, type 4, Ehlers-Danlos syndrome |
| RS397509369 | Health Risk | Pathogenic | Ehlers-Danlos syndrome, type 4, Ehlers-Danlos syndrome |
| RS397509370 | Health Risk | Pathogenic | Ehlers-Danlos syndrome, type 4, Familial thoracic aortic aneurysm and aortic dissection |
| RS397509373 | Health Risk | Pathogenic | Ehlers-Danlos syndrome, type 4, Ehlers-Danlos syndrome |
| RS397509374 | Health Risk | Pathogenic | Ehlers-Danlos syndrome, type 4, Ehlers-Danlos syndrome |
| RS397509375 | Health Risk | Pathogenic | Ehlers-Danlos syndrome, type 4, Ehlers-Danlos syndrome |
| RS397509376 | Health Risk | Pathogenic | Ehlers-Danlos syndrome, type 4, Ehlers-Danlos syndrome |
| RS397509377 | Health Risk | Pathogenic | Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome, Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome |
| RS559102186 | Health Risk | Pathogenic | Ehlers-Danlos syndrome, type 4, Ehlers-Danlos syndrome |
| RS587779416 | Health Risk | Pathogenic | Ehlers-Danlos syndrome, type 4, Ehlers-Danlos syndrome |
| RS587779417 | Health Risk | Pathogenic | Ehlers-Danlos syndrome, type 4, Ehlers-Danlos syndrome |