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 |
|---|---|---|---|
| RS2469130111 | Health Risk | Likely pathogenic | Ehlers-Danlos syndrome, type 4, Familial thoracic aortic aneurysm and aortic dissection |
| RS2469130364 | Health Risk | Likely pathogenic | Ehlers-Danlos syndrome, type 4, Ehlers-Danlos syndrome |
| RS2469133020 | Health Risk | Likely pathogenic | Ehlers-Danlos syndrome, type 4, Ehlers-Danlos syndrome |
| RS2469133091 | Health Risk | Likely pathogenic | Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection |
| RS2469134005 | Health Risk | Likely pathogenic | COL3A1-related disorder, COL3A1-related disorder |
| RS2469134090 | Health Risk | Likely pathogenic | Ehlers-Danlos syndrome, type 4, Ehlers-Danlos syndrome |
| RS2469135270 | Health Risk | Likely pathogenic | Ehlers-Danlos syndrome, type 4, Ehlers-Danlos syndrome |
| RS2469135450 | Health Risk | Likely pathogenic | Ehlers-Danlos syndrome, type 4, Ehlers-Danlos syndrome |
| RS2469137619 | Health Risk | Likely pathogenic | Ehlers-Danlos syndrome, type 4, Melanoma |
| RS2469137653 | Health Risk | Likely pathogenic | Ehlers-Danlos syndrome, type 4, Ehlers-Danlos syndrome |
| RS2469137695 | Health Risk | Likely pathogenic | Ehlers-Danlos syndrome, type 4, Ehlers-Danlos syndrome |
| RS2469138091 | Health Risk | Likely pathogenic | Ehlers-Danlos syndrome, type 4, Ehlers-Danlos syndrome |
| RS2469138099 | Health Risk | Likely pathogenic | COL3A1-related disorder, COL3A1-related disorder |
| RS2469138123 | Health Risk | Likely pathogenic | Ehlers-Danlos syndrome, type 4, Ehlers-Danlos syndrome |
| RS2469138189 | Health Risk | Likely pathogenic | Familial thoracic aortic aneurysm and aortic dissection, Ehlers-Danlos syndrome, type 4 |
| RS2469138288 | Health Risk | Likely pathogenic | Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection |
| RS2469143353 | Health Risk | Likely pathogenic | Ehlers-Danlos syndrome, type 4, Ehlers-Danlos syndrome |
| RS2469143498 | Health Risk | Likely pathogenic | COL3A1-related disorder, COL3A1-related disorder |
| RS2469143500 | Health Risk | Likely pathogenic | — |
| RS2469147656 | Health Risk | Likely pathogenic | Ehlers-Danlos syndrome, type 4, Ehlers-Danlos syndrome |
| RS2469147714 | Health Risk | Likely pathogenic | Ehlers-Danlos syndrome, type 4, Ehlers-Danlos syndrome |
| RS2469148127 | Health Risk | Likely pathogenic | Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection |
| RS2469148128 | Health Risk | Likely pathogenic | Ehlers-Danlos syndrome, type 4, Ehlers-Danlos syndrome |
| RS2469149427 | Health Risk | Likely pathogenic | Ehlers-Danlos syndrome, type 4, Ehlers-Danlos syndrome |
| RS2469149468 | Health Risk | Likely pathogenic | Ehlers-Danlos syndrome, type 4, Ehlers-Danlos syndrome |
| RS2469150656 | Health Risk | Likely pathogenic | Ehlers-Danlos syndrome, type 4, Ehlers-Danlos syndrome |
| RS2469152092 | Health Risk | Likely pathogenic | Ehlers-Danlos syndrome, type 4, Ehlers-Danlos syndrome |
| RS2469153502 | Health Risk | Likely pathogenic | Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection |
| RS2469154289 | Health Risk | Likely pathogenic | Ehlers-Danlos syndrome, type 4, Ehlers-Danlos syndrome |
| RS2469156496 | Health Risk | Likely pathogenic | Ehlers-Danlos syndrome, type 4, Familial aortopathy |
| RS2469158167 | Health Risk | Likely pathogenic | Ehlers-Danlos syndrome, type 4, Ehlers-Danlos syndrome |
| RS2469158238 | Health Risk | Likely pathogenic | Ehlers-Danlos syndrome, type 4, Ehlers-Danlos syndrome |
| RS2469158240 | Health Risk | Likely pathogenic | Ehlers-Danlos syndrome, type 4, Ehlers-Danlos syndrome |
| RS2469161837 | Health Risk | Likely pathogenic | Ehlers-Danlos syndrome, type 4, Ehlers-Danlos syndrome |
| RS2469162978 | Health Risk | Likely pathogenic | Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection |
| RS2469163029 | Health Risk | Likely pathogenic | Ehlers-Danlos syndrome, type 4, Ehlers-Danlos syndrome |
| RS397509371 | Health Risk | Likely pathogenic | Ehlers-Danlos syndrome, type 4, Ehlers-Danlos syndrome |
| RS397509372 | Health Risk | Likely pathogenic | Ehlers-Danlos syndrome, type 4, Ehlers-Danlos syndrome |
| RS587779418 | Health Risk | Likely pathogenic | Ehlers-Danlos syndrome, type 4, Ehlers-Danlos syndrome |
| RS587779424 | Health Risk | Likely pathogenic | Ehlers-Danlos syndrome, type 4, Ehlers-Danlos syndrome |
| RS587779430 | Health Risk | Likely pathogenic | Ehlers-Danlos syndrome, type 4, Ehlers-Danlos syndrome |
| RS587779433 | Health Risk | Likely pathogenic | Ehlers-Danlos syndrome, type 4, Familial thoracic aortic aneurysm and aortic dissection |
| RS587779435 | Health Risk | Likely pathogenic | Ehlers-Danlos syndrome, type 4, Ehlers-Danlos syndrome |
| RS587779436 | Health Risk | Likely pathogenic | Ehlers-Danlos syndrome, type 4, Ehlers-Danlos syndrome |
| RS587779437 | Health Risk | Likely pathogenic | Ehlers-Danlos syndrome, type 4, Ehlers-Danlos syndrome |
| RS587779438 | Health Risk | Likely pathogenic | Ehlers-Danlos syndrome, type 4, Ehlers-Danlos syndrome |
| RS587779441 | Health Risk | Likely pathogenic | Ehlers-Danlos syndrome, type 4, Ehlers-Danlos syndrome |
| RS587779447 | Health Risk | Likely pathogenic | Ehlers-Danlos syndrome, type 4, Familial thoracic aortic aneurysm and aortic dissection |
| RS587779458 | Health Risk | Likely pathogenic | Ehlers-Danlos syndrome, type 4, Familial thoracic aortic aneurysm and aortic dissection |
| RS587779460 | Health Risk | Likely pathogenic | Ehlers-Danlos syndrome, type 4, Ehlers-Danlos syndrome |