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 |
|---|---|---|---|
| RS121912927 | Health Risk | Pathogenic | Ehlers-Danlos syndrome, type 4, Familial thoracic aortic aneurysm and aortic dissection |
| RS121912928 | Health Risk | Pathogenic | Ehlers-Danlos syndrome, type 4, Ehlers-Danlos syndrome |
| RS1328301317 | Health Risk | Pathogenic | Ehlers-Danlos syndrome, type 4, Ehlers-Danlos syndrome |
| RS1333421028 | Health Risk | Pathogenic | Ehlers-Danlos syndrome, type 4, Familial thoracic aortic aneurysm and aortic dissection |
| RS145712671 | Health Risk | Pathogenic | — |
| RS1460396340 | Health Risk | Pathogenic | Ehlers-Danlos syndrome, type 4, Ehlers-Danlos syndrome |
| RS1468768980 | Health Risk | Pathogenic | Ehlers-Danlos syndrome, type 4, Ehlers-Danlos syndrome |
| RS1553507180 | Health Risk | Pathogenic | Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection |
| RS1553507265 | Health Risk | Pathogenic | Ehlers-Danlos syndrome, type 4, Ehlers-Danlos syndrome |
| RS1553507274 | Health Risk | Pathogenic | Ehlers-Danlos syndrome, type 4, Ehlers-Danlos syndrome |
| RS1553508025 | Health Risk | Pathogenic | Ehlers-Danlos syndrome, type 4, Ehlers-Danlos syndrome |
| RS1553508473 | Health Risk | Pathogenic | Congenital aneurysm of ascending aorta, Ehlers-Danlos syndrome, type 4 |
| RS1553508957 | Health Risk | Pathogenic | Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection |
| RS1553509208 | Health Risk | Pathogenic | Ehlers-Danlos syndrome, type 4, Ehlers-Danlos syndrome |
| RS1553509630 | Health Risk | Pathogenic | Ehlers-Danlos syndrome, type 4, Ehlers-Danlos syndrome |
| RS1553509726 | Health Risk | Pathogenic | Ehlers-Danlos syndrome, type 4, Ehlers-Danlos syndrome |
| RS1553509869 | Health Risk | Pathogenic | Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection |
| RS1559052609 | Health Risk | Pathogenic | Ehlers-Danlos syndrome, type 4, Ehlers-Danlos syndrome |
| RS1559053784 | Health Risk | Pathogenic | Ehlers-Danlos syndrome, type 4, Ehlers-Danlos syndrome |
| RS1559055162 | Health Risk | Pathogenic | Ehlers-Danlos syndrome, type 4, Ehlers-Danlos syndrome |
| RS1559056621 | Health Risk | Pathogenic | Ehlers-Danlos syndrome, type 4, Ehlers-Danlos syndrome |
| RS1559057346 | Health Risk | Pathogenic | Ehlers-Danlos syndrome, type 4, Ehlers-Danlos syndrome |
| RS1559058482 | Health Risk | Pathogenic | Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome, Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome |
| RS1559058551 | Health Risk | Pathogenic | — |
| RS1559059873 | Health Risk | Pathogenic | Ehlers-Danlos syndrome, type 4, Ehlers-Danlos syndrome |
| RS1559060412 | Health Risk | Pathogenic | Ehlers-Danlos syndrome, type 4, Ehlers-Danlos syndrome |
| RS1559061242 | Health Risk | Pathogenic | Ehlers-Danlos syndrome, type 4, Ehlers-Danlos syndrome |
| RS1576463100 | Health Risk | Pathogenic | Ehlers-Danlos syndrome, type 4, Ehlers-Danlos syndrome |
| RS1576463632 | Health Risk | Pathogenic | Ehlers-Danlos syndrome, type 4, Ehlers-Danlos syndrome |
| RS1576463663 | Health Risk | Pathogenic | Ehlers-Danlos syndrome, type 4, Ehlers-Danlos syndrome |
| RS1576465155 | Health Risk | Pathogenic | Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome, Ehlers-Danlos syndrome, type 4 |
| RS1576467144 | Health Risk | Pathogenic | Ehlers-Danlos syndrome, type 4, Ehlers-Danlos syndrome |
| RS1576467391 | Health Risk | Pathogenic | Ehlers-Danlos syndrome, type 4, Ehlers-Danlos syndrome |
| RS1576473641 | Health Risk | Pathogenic | Ehlers-Danlos syndrome, type 4, Ehlers-Danlos syndrome |
| RS1576474929 | Health Risk | Pathogenic | Ehlers-Danlos syndrome, type 4, Ehlers-Danlos syndrome |
| RS1688268302 | Health Risk | Pathogenic | Ehlers-Danlos syndrome, type 4, Ehlers-Danlos syndrome |
| RS1688305296 | Health Risk | Pathogenic | Ehlers-Danlos syndrome, type 4, Ehlers-Danlos syndrome |
| RS1688322811 | Health Risk | Pathogenic | Ehlers-Danlos syndrome, type 4, Ehlers-Danlos syndrome |
| RS1688402212 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS1688528616 | Health Risk | Pathogenic | Ehlers-Danlos syndrome, type 4, Ehlers-Danlos syndrome |
| RS1688529460 | Health Risk | Pathogenic | Ehlers-Danlos syndrome, type 4, Ehlers-Danlos syndrome |
| RS1688561706 | Health Risk | Pathogenic | Ehlers-Danlos syndrome, type 4, Ehlers-Danlos syndrome |
| RS1688663336 | Health Risk | Pathogenic | Ehlers-Danlos syndrome, type 4, Ehlers-Danlos syndrome |
| RS1688730568 | Health Risk | Pathogenic | Ehlers-Danlos syndrome, type 4, Ehlers-Danlos syndrome |
| RS193922176 | Health Risk | Pathogenic | Familial aortopathy, Ehlers-Danlos syndrome, type 4 |
| RS2153501353 | Health Risk | Pathogenic | Ehlers-Danlos syndrome, type 4, Ehlers-Danlos syndrome |
| RS2153501416 | Health Risk | Pathogenic | Ehlers-Danlos syndrome, type 4, Ehlers-Danlos syndrome |
| RS2153501869 | Health Risk | Pathogenic | Ehlers-Danlos syndrome, type 4, Ehlers-Danlos syndrome |
| RS2153501942 | Health Risk | Pathogenic | Ehlers-Danlos syndrome, type 4, Ehlers-Danlos syndrome |
| RS2153501973 | Health Risk | Pathogenic | — |