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 |
|---|---|---|---|
| RS794728057 | Health Risk | Pathogenic | Familial thoracic aortic aneurysm and aortic dissection, Ehlers-Danlos syndrome, type 4 |
| RS794728059 | Health Risk | Pathogenic | — |
| RS886038920 | Health Risk | Pathogenic | Cardiovascular phenotype, Cardiovascular phenotype |
| RS886038925 | Health Risk | Pathogenic | Cardiovascular phenotype, Cardiovascular phenotype |
| RS1057518075 | Health Risk | Pathogenic/Likely pathogenic | Ehlers-Danlos syndrome, type 4, Familial thoracic aortic aneurysm and aortic dissection |
| RS1057518372 | Health Risk | Pathogenic/Likely pathogenic | Ehlers-Danlos syndrome, type 4, Familial thoracic aortic aneurysm and aortic dissection |
| RS1060500204 | Health Risk | Pathogenic/Likely pathogenic | Ehlers-Danlos syndrome, type 4, Familial thoracic aortic aneurysm and aortic dissection |
| RS113485686 | Health Risk | Pathogenic/Likely pathogenic | Ehlers-Danlos syndrome, type 4, Familial thoracic aortic aneurysm and aortic dissection |
| RS1223008559 | Health Risk | Pathogenic/Likely pathogenic | Familial thoracic aortic aneurysm and aortic dissection, Ehlers-Danlos syndrome, type 4 |
| RS1393544920 | Health Risk | Pathogenic/Likely pathogenic | Familial thoracic aortic aneurysm and aortic dissection, Ehlers-Danlos syndrome, type 4 |
| RS1553507432 | Health Risk | Pathogenic/Likely pathogenic | Ehlers-Danlos syndrome, type 4, Ehlers-Danlos syndrome |
| RS1553507614 | Health Risk | Pathogenic/Likely pathogenic | Ehlers-Danlos syndrome, type 4, Familial thoracic aortic aneurysm and aortic dissection |
| RS1553508338 | Health Risk | Pathogenic/Likely pathogenic | Ehlers-Danlos syndrome, type 4, Familial thoracic aortic aneurysm and aortic dissection |
| RS1553508463 | Health Risk | Pathogenic/Likely pathogenic | Cardiovascular phenotype, Ehlers-Danlos syndrome, type 4 |
| RS1553508544 | Health Risk | Pathogenic/Likely pathogenic | Ehlers-Danlos syndrome, type 4, Ehlers-Danlos syndrome |
| RS1553509391 | Health Risk | Pathogenic/Likely pathogenic | Ehlers-Danlos syndrome, type 4, Familial thoracic aortic aneurysm and aortic dissection |
| RS1553509430 | Health Risk | Pathogenic/Likely pathogenic | Ehlers-Danlos syndrome, type 4, Ehlers-Danlos syndrome |
| RS1559054653 | Health Risk | Pathogenic/Likely pathogenic | Ehlers-Danlos syndrome, type 4, Ehlers-Danlos syndrome |
| RS1559056438 | Health Risk | Pathogenic/Likely pathogenic | Ehlers-Danlos syndrome, type 4, Familial thoracic aortic aneurysm and aortic dissection |
| RS1559061706 | Health Risk | Pathogenic/Likely pathogenic | Ehlers-Danlos syndrome, type 4, Ehlers-Danlos syndrome |
| RS1576468562 | Health Risk | Pathogenic/Likely pathogenic | Ehlers-Danlos syndrome, type 4, Ehlers-Danlos syndrome |
| RS1576471840 | Health Risk | Pathogenic/Likely pathogenic | Ehlers-Danlos syndrome, type 4, Ehlers-Danlos syndrome |
| RS2153501864 | Health Risk | Pathogenic/Likely pathogenic | Ehlers-Danlos syndrome, type 4, Familial thoracic aortic aneurysm and aortic dissection |
| RS2153503061 | Health Risk | Pathogenic/Likely pathogenic | Ehlers-Danlos syndrome, type 4, Familial thoracic aortic aneurysm and aortic dissection |
| RS2153503368 | Health Risk | Pathogenic/Likely pathogenic | Ehlers-Danlos syndrome, type 4, Ehlers-Danlos syndrome |
| RS2153503430 | Health Risk | Pathogenic/Likely pathogenic | Ehlers-Danlos syndrome, type 4, Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome |
| RS2153503634 | Health Risk | Pathogenic/Likely pathogenic | Ehlers-Danlos syndrome, type 4, Familial thoracic aortic aneurysm and aortic dissection |
| RS2469122024 | Health Risk | Pathogenic/Likely pathogenic | Ehlers-Danlos syndrome, type 4, Ehlers-Danlos syndrome |
| RS2469130010 | Health Risk | Pathogenic/Likely pathogenic | Ehlers-Danlos syndrome, type 4, Familial thoracic aortic aneurysm and aortic dissection |
| RS2469135354 | Health Risk | Pathogenic/Likely pathogenic | Ehlers-Danlos syndrome, type 4, Familial thoracic aortic aneurysm and aortic dissection |
| RS2469153261 | Health Risk | Pathogenic/Likely pathogenic | Ehlers-Danlos syndrome, type 4, Ehlers-Danlos syndrome |
| RS2469159525 | Health Risk | Pathogenic/Likely pathogenic | Ehlers-Danlos syndrome, type 4, Thoracic aortic aneurysm or dissection |
| RS553203474 | Health Risk | Pathogenic/Likely pathogenic | Ehlers-Danlos syndrome, type 4, Familial thoracic aortic aneurysm and aortic dissection |
| RS572097661 | Health Risk | Pathogenic/Likely pathogenic | Ehlers-Danlos syndrome, type 4, Familial thoracic aortic aneurysm and aortic dissection |
| RS587779445 | Health Risk | Pathogenic/Likely pathogenic | Ehlers-Danlos syndrome, type 4, Familial aortopathy |
| RS587779454 | Health Risk | Pathogenic/Likely pathogenic | Ehlers-Danlos syndrome, type 4, Ehlers-Danlos syndrome |
| RS587779463 | Health Risk | Pathogenic/Likely pathogenic | Ehlers-Danlos syndrome, type 4, Familial thoracic aortic aneurysm and aortic dissection |
| RS587779479 | Health Risk | Pathogenic/Likely pathogenic | Ehlers-Danlos syndrome, type 4, Familial thoracic aortic aneurysm and aortic dissection |
| RS587779482 | Health Risk | Pathogenic/Likely pathogenic | Ehlers-Danlos syndrome, type 4, Familial thoracic aortic aneurysm and aortic dissection |
| RS587779498 | Health Risk | Pathogenic/Likely pathogenic | Ehlers-Danlos syndrome, type 4, Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome |
| RS587779549 | Health Risk | Pathogenic/Likely pathogenic | Ehlers-Danlos syndrome, type 4, Ehlers-Danlos syndrome |
| RS587779563 | Health Risk | Pathogenic/Likely pathogenic | Ehlers-Danlos syndrome, type 4, Familial thoracic aortic aneurysm and aortic dissection |
| RS587779578 | Health Risk | Pathogenic/Likely pathogenic | Ehlers-Danlos syndrome, type 4, Ehlers-Danlos syndrome |
| RS587779584 | Health Risk | Pathogenic/Likely pathogenic | Ehlers-Danlos syndrome, type 4, Familial thoracic aortic aneurysm and aortic dissection |
| RS587779587 | Health Risk | Pathogenic/Likely pathogenic | Ehlers-Danlos syndrome, type 4, Ehlers-Danlos syndrome |
| RS587779588 | Health Risk | Pathogenic/Likely pathogenic | Ehlers-Danlos syndrome, type 4, Ehlers-Danlos syndrome |
| RS587779596 | Health Risk | Pathogenic/Likely pathogenic | Ehlers-Danlos syndrome, type 4, Familial thoracic aortic aneurysm and aortic dissection |
| RS587779606 | Health Risk | Pathogenic/Likely pathogenic | Ehlers-Danlos syndrome, type 4, Ehlers-Danlos syndrome |
| RS587779626 | Health Risk | Pathogenic/Likely pathogenic | Ehlers-Danlos syndrome, type 4, Familial thoracic aortic aneurysm and aortic dissection |
| RS587779631 | Health Risk | Pathogenic/Likely pathogenic | Ehlers-Danlos syndrome, type 4, Ehlers-Danlos syndrome |