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 |
|---|---|---|---|
| RS10186160 | Health Risk | Conflicting classifications of pathogenicity | Familial thoracic aortic aneurysm and aortic dissection, Ehlers-Danlos syndrome, type 4 |
| RS1045459966 | Health Risk | Conflicting classifications of pathogenicity | Ehlers-Danlos syndrome, type 4, Ehlers-Danlos syndrome |
| RS1060500195 | Health Risk | Conflicting classifications of pathogenicity | Ehlers-Danlos syndrome, type 4, Familial thoracic aortic aneurysm and aortic dissection |
| RS111391222 | Health Risk | Conflicting classifications of pathogenicity | Aortic aneurysm, Ehlers-Danlos syndrome, type 4 |
| RS111567071 | Health Risk | Conflicting classifications of pathogenicity | Ehlers-Danlos syndrome, type 4, Connective tissue disorder |
| RS111840783 | Health Risk | Conflicting classifications of pathogenicity | Ehlers-Danlos syndrome, type 4, Loeys-Dietz syndrome |
| RS112371422 | Health Risk | Conflicting classifications of pathogenicity | Ehlers-Danlos syndrome, type 4, Familial thoracic aortic aneurysm and aortic dissection |
| RS113304344 | Health Risk | Conflicting classifications of pathogenicity | Ehlers-Danlos syndrome, type 4, Familial thoracic aortic aneurysm and aortic dissection |
| RS1163013218 | Health Risk | Conflicting classifications of pathogenicity | Ehlers-Danlos syndrome, type 4, Ehlers-Danlos syndrome |
| RS1229792348 | Health Risk | Conflicting classifications of pathogenicity | Ehlers-Danlos syndrome, type 4, Familial thoracic aortic aneurysm and aortic dissection |
| RS1283050088 | Health Risk | Conflicting classifications of pathogenicity | Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome, Ehlers-Danlos syndrome, type 4 |
| RS1310461523 | Health Risk | Conflicting classifications of pathogenicity | Ehlers-Danlos syndrome, type 4, Ehlers-Danlos syndrome |
| RS1319321003 | Health Risk | Conflicting classifications of pathogenicity | Familial thoracic aortic aneurysm and aortic dissection, Ehlers-Danlos syndrome, type 4 |
| RS138533702 | Health Risk | Conflicting classifications of pathogenicity | Ehlers-Danlos syndrome, type 4, Familial thoracic aortic aneurysm and aortic dissection |
| RS138569287 | Health Risk | Conflicting classifications of pathogenicity | Familial thoracic aortic aneurysm and aortic dissection, Ehlers-Danlos syndrome, type 4 |
| RS138818489 | Health Risk | Conflicting classifications of pathogenicity | Familial thoracic aortic aneurysm and aortic dissection, Ehlers-Danlos syndrome, type 4 |
| RS139610730 | Health Risk | Conflicting classifications of pathogenicity | Ehlers-Danlos syndrome, type 4, Familial thoracic aortic aneurysm and aortic dissection |
| RS1399453028 | Health Risk | Conflicting classifications of pathogenicity | Ehlers-Danlos syndrome, type 4, Familial thoracic aortic aneurysm and aortic dissection |
| RS140257722 | Health Risk | Conflicting classifications of pathogenicity | Ehlers-Danlos syndrome, type 4, Familial thoracic aortic aneurysm and aortic dissection |
| RS140646380 | Health Risk | Conflicting classifications of pathogenicity | Ehlers-Danlos syndrome, type 4, Familial thoracic aortic aneurysm and aortic dissection |
| RS1415901923 | Health Risk | Conflicting classifications of pathogenicity | Familial thoracic aortic aneurysm and aortic dissection, Ehlers-Danlos syndrome, type 4 |
| RS142045411 | Health Risk | Conflicting classifications of pathogenicity | Ehlers-Danlos syndrome, type 4, Familial thoracic aortic aneurysm and aortic dissection |
| RS142437505 | Health Risk | Conflicting classifications of pathogenicity | Familial thoracic aortic aneurysm and aortic dissection, Ehlers-Danlos syndrome, type 4 |
| RS1427744978 | Health Risk | Conflicting classifications of pathogenicity | Familial thoracic aortic aneurysm and aortic dissection, Ehlers-Danlos syndrome, type 4 |
| RS144036995 | Health Risk | Conflicting classifications of pathogenicity | Ehlers-Danlos syndrome, type 4, Familial thoracic aortic aneurysm and aortic dissection |
| RS1441743655 | Health Risk | Conflicting classifications of pathogenicity | Ehlers-Danlos syndrome, type 4, Familial thoracic aortic aneurysm and aortic dissection |
| RS144614075 | Health Risk | Conflicting classifications of pathogenicity | Ehlers-Danlos syndrome, type 3, type 4 |
| RS1447080385 | Health Risk | Conflicting classifications of pathogenicity | Ehlers-Danlos syndrome, type 4, Ehlers-Danlos syndrome |
| RS146652498 | Health Risk | Conflicting classifications of pathogenicity | Connective tissue disorder, Familial thoracic aortic aneurysm and aortic dissection, Ehlers-Danlos syndrome |
| RS1474453319 | Health Risk | Conflicting classifications of pathogenicity | Familial thoracic aortic aneurysm and aortic dissection, Ehlers-Danlos syndrome, type 4 |
| RS147663769 | Health Risk | Conflicting classifications of pathogenicity | Ehlers-Danlos syndrome, type 4, Familial thoracic aortic aneurysm and aortic dissection |
| RS147706051 | Health Risk | Conflicting classifications of pathogenicity | Familial thoracic aortic aneurysm and aortic dissection, Ehlers-Danlos syndrome, type 4 |
| RS148918486 | Health Risk | Conflicting classifications of pathogenicity | Ehlers-Danlos syndrome, type 4, Familial thoracic aortic aneurysm and aortic dissection |
| RS149722210 | Health Risk | Conflicting classifications of pathogenicity | Ehlers-Danlos syndrome, type 4, Connective tissue disorder |
| RS150543864 | Health Risk | Conflicting classifications of pathogenicity | Ehlers-Danlos syndrome, type 4, Familial thoracic aortic aneurysm and aortic dissection |
| RS1553507953 | Health Risk | Conflicting classifications of pathogenicity | Ehlers-Danlos syndrome, type 4, Familial thoracic aortic aneurysm and aortic dissection |
| RS1553507955 | Health Risk | Conflicting classifications of pathogenicity | Ehlers-Danlos syndrome, Familial thoracic aortic aneurysm and aortic dissection, Ehlers-Danlos syndrome |
| RS1553508039 | Health Risk | Conflicting classifications of pathogenicity | Ehlers-Danlos syndrome, type 4, Familial thoracic aortic aneurysm and aortic dissection |
| RS1553508534 | Health Risk | Conflicting classifications of pathogenicity | Connective tissue disorder, Ehlers-Danlos syndrome, type 4 |
| RS1553508711 | Health Risk | Conflicting classifications of pathogenicity | Ehlers-Danlos syndrome, type 4, Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome |
| RS1553509193 | Health Risk | Conflicting classifications of pathogenicity | Ehlers-Danlos syndrome, type 4, Ehlers-Danlos syndrome |
| RS1553509401 | Health Risk | Conflicting classifications of pathogenicity | Ehlers-Danlos syndrome, type 4, Ehlers-Danlos syndrome |
| RS1553510000 | Health Risk | Conflicting classifications of pathogenicity | Ehlers-Danlos syndrome, type 4, Ehlers-Danlos syndrome |
| RS1559052551 | Health Risk | Conflicting classifications of pathogenicity | Ehlers-Danlos syndrome, type 4, Familial thoracic aortic aneurysm and aortic dissection |
| RS1559056179 | Health Risk | Conflicting classifications of pathogenicity | Familial thoracic aortic aneurysm and aortic dissection, Ehlers-Danlos syndrome, type 4 |
| RS1559061716 | Health Risk | Conflicting classifications of pathogenicity | Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection |
| RS1576462792 | Health Risk | Conflicting classifications of pathogenicity | Familial thoracic aortic aneurysm and aortic dissection, Ehlers-Danlos syndrome, type 4 |
| RS1576471851 | Health Risk | Conflicting classifications of pathogenicity | Ehlers-Danlos syndrome, type 4, Ehlers-Danlos syndrome |
| RS1576473569 | Health Risk | Conflicting classifications of pathogenicity | Familial thoracic aortic aneurysm and aortic dissection, Ehlers-Danlos syndrome, type 4 |
| RS1688079577 | Health Risk | Conflicting classifications of pathogenicity | Familial thoracic aortic aneurysm and aortic dissection, Ehlers-Danlos syndrome, type 4 |