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 |
|---|---|---|---|
| RS376651720 | Health Risk | Conflicting classifications of pathogenicity | Ehlers-Danlos syndrome, type 4, Familial thoracic aortic aneurysm and aortic dissection |
| RS376799861 | Health Risk | Conflicting classifications of pathogenicity | Ehlers-Danlos syndrome, type 4, Familial thoracic aortic aneurysm and aortic dissection |
| RS527291598 | Health Risk | Conflicting classifications of pathogenicity | Familial thoracic aortic aneurysm and aortic dissection, Ehlers-Danlos syndrome, type 4 |
| RS528634384 | Health Risk | Conflicting classifications of pathogenicity | Ehlers-Danlos syndrome, type 4, Familial thoracic aortic aneurysm and aortic dissection |
| RS528758308 | Health Risk | Conflicting classifications of pathogenicity | Familial thoracic aortic aneurysm and aortic dissection, Ehlers-Danlos syndrome, type 4 |
| RS546664098 | Health Risk | Conflicting classifications of pathogenicity | Familial thoracic aortic aneurysm and aortic dissection, Ehlers-Danlos syndrome, type 4 |
| RS550665335 | Health Risk | Conflicting classifications of pathogenicity | Ehlers-Danlos syndrome, type 4, Familial thoracic aortic aneurysm and aortic dissection |
| RS551541918 | Health Risk | Conflicting classifications of pathogenicity | Ehlers-Danlos syndrome, type 4, Familial thoracic aortic aneurysm and aortic dissection |
| RS560861999 | Health Risk | Conflicting classifications of pathogenicity | Ehlers-Danlos syndrome, type 4, Familial thoracic aortic aneurysm and aortic dissection |
| RS561556753 | Health Risk | Conflicting classifications of pathogenicity | Familial thoracic aortic aneurysm and aortic dissection, Ehlers-Danlos syndrome, type 4 |
| RS568986390 | Health Risk | Conflicting classifications of pathogenicity | Ehlers-Danlos syndrome, type 4, Familial thoracic aortic aneurysm and aortic dissection |
| RS574331101 | Health Risk | Conflicting classifications of pathogenicity | Ehlers-Danlos syndrome, type 4, Familial thoracic aortic aneurysm and aortic dissection |
| RS587779538 | Health Risk | Conflicting classifications of pathogenicity | Ehlers-Danlos syndrome, type 4, Familial thoracic aortic aneurysm and aortic dissection |
| RS587779565 | Health Risk | Conflicting classifications of pathogenicity | Ehlers-Danlos syndrome, type 4, Familial thoracic aortic aneurysm and aortic dissection |
| RS587779585 | Health Risk | Conflicting classifications of pathogenicity | Ehlers-Danlos syndrome, type 4, Ehlers-Danlos syndrome |
| RS745743884 | Health Risk | Conflicting classifications of pathogenicity | Familial thoracic aortic aneurysm and aortic dissection, Ehlers-Danlos syndrome, type 4 |
| RS746035610 | Health Risk | Conflicting classifications of pathogenicity | Ehlers-Danlos syndrome, type 4, Familial thoracic aortic aneurysm and aortic dissection |
| RS747419192 | Health Risk | Conflicting classifications of pathogenicity | Ehlers-Danlos syndrome, type 4, Familial thoracic aortic aneurysm and aortic dissection |
| RS747522483 | Health Risk | Conflicting classifications of pathogenicity | Familial thoracic aortic aneurysm and aortic dissection, Ehlers-Danlos syndrome, type 4 |
| RS749995320 | Health Risk | Conflicting classifications of pathogenicity | Familial thoracic aortic aneurysm and aortic dissection, Ehlers-Danlos syndrome, type 4 |
| RS751278507 | Health Risk | Conflicting classifications of pathogenicity | Ehlers-Danlos syndrome, type 4, Ehlers-Danlos syndrome |
| RS753162027 | Health Risk | Conflicting classifications of pathogenicity | Ehlers-Danlos syndrome, type 4, Familial thoracic aortic aneurysm and aortic dissection |
| RS753474870 | Health Risk | Conflicting classifications of pathogenicity | Ehlers-Danlos syndrome, type 4, Familial thoracic aortic aneurysm and aortic dissection |
| RS754723643 | Health Risk | Conflicting classifications of pathogenicity | Ehlers-Danlos syndrome, type 4, Familial thoracic aortic aneurysm and aortic dissection |
| RS755573602 | Health Risk | Conflicting classifications of pathogenicity | Ehlers-Danlos syndrome, type 4, Familial thoracic aortic aneurysm and aortic dissection |
| RS755731385 | Health Risk | Conflicting classifications of pathogenicity | Ehlers-Danlos syndrome, type 4, Familial thoracic aortic aneurysm and aortic dissection |
| RS756125442 | Health Risk | Conflicting classifications of pathogenicity | Ehlers-Danlos syndrome, type 4, Familial thoracic aortic aneurysm and aortic dissection |
| RS756227982 | Health Risk | Conflicting classifications of pathogenicity | Familial thoracic aortic aneurysm and aortic dissection, COL3A1-related disorder, Familial thoracic aortic aneurysm and aortic dissection |
| RS757062073 | Health Risk | Conflicting classifications of pathogenicity | Ehlers-Danlos syndrome, type 4, COL3A1-related disorder |
| RS757192342 | Health Risk | Conflicting classifications of pathogenicity | Ehlers-Danlos syndrome, type 4, Familial thoracic aortic aneurysm and aortic dissection |
| RS758992360 | Health Risk | Conflicting classifications of pathogenicity | Familial thoracic aortic aneurysm and aortic dissection, Ehlers-Danlos syndrome, type 4 |
| RS760482912 | Health Risk | Conflicting classifications of pathogenicity | Familial thoracic aortic aneurysm and aortic dissection, Ehlers-Danlos syndrome, type 4 |
| RS761447734 | Health Risk | Conflicting classifications of pathogenicity | Familial thoracic aortic aneurysm and aortic dissection, Ehlers-Danlos syndrome, type 4 |
| RS762561768 | Health Risk | Conflicting classifications of pathogenicity | Ehlers-Danlos syndrome, type 4, Ehlers-Danlos syndrome |
| RS763316592 | Health Risk | Conflicting classifications of pathogenicity | Ehlers-Danlos syndrome, type 4, Familial thoracic aortic aneurysm and aortic dissection |
| RS764299277 | Health Risk | Conflicting classifications of pathogenicity | Ehlers-Danlos syndrome, type 4, Familial thoracic aortic aneurysm and aortic dissection |
| RS765128089 | Health Risk | Conflicting classifications of pathogenicity | Ehlers-Danlos syndrome, type 4, Familial thoracic aortic aneurysm and aortic dissection |
| RS766750333 | Health Risk | Conflicting classifications of pathogenicity | Ehlers-Danlos syndrome, type 4, Familial thoracic aortic aneurysm and aortic dissection |
| RS767927599 | Health Risk | Conflicting classifications of pathogenicity | Ehlers-Danlos syndrome, type 4, Familial thoracic aortic aneurysm and aortic dissection |
| RS767971610 | Health Risk | Conflicting classifications of pathogenicity | Familial thoracic aortic aneurysm and aortic dissection, Ehlers-Danlos syndrome, type 4 |
| RS768314657 | Health Risk | Conflicting classifications of pathogenicity | Ehlers-Danlos syndrome, type 4, Familial thoracic aortic aneurysm and aortic dissection |
| RS768671254 | Health Risk | Conflicting classifications of pathogenicity | Ehlers-Danlos syndrome, type 4, Familial thoracic aortic aneurysm and aortic dissection |
| RS770157568 | Health Risk | Conflicting classifications of pathogenicity | Familial thoracic aortic aneurysm and aortic dissection, Ehlers-Danlos syndrome, type 4 |
| RS770525372 | Health Risk | Conflicting classifications of pathogenicity | Ehlers-Danlos syndrome, type 4, Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome |
| RS771585795 | Health Risk | Conflicting classifications of pathogenicity | Ehlers-Danlos syndrome, type 4, Familial thoracic aortic aneurysm and aortic dissection |
| RS771654029 | Health Risk | Conflicting classifications of pathogenicity | Ehlers-Danlos syndrome, type 4, Familial thoracic aortic aneurysm and aortic dissection |
| RS771671892 | Health Risk | Conflicting classifications of pathogenicity | Familial thoracic aortic aneurysm and aortic dissection, Ehlers-Danlos syndrome, type 4 |
| RS771858477 | Health Risk | Conflicting classifications of pathogenicity | Connective tissue disorder, Familial thoracic aortic aneurysm and aortic dissection, Ehlers-Danlos syndrome |
| RS772638774 | Health Risk | Conflicting classifications of pathogenicity | Familial thoracic aortic aneurysm and aortic dissection, Ehlers-Danlos syndrome, type 4 |
| RS774551212 | Health Risk | Conflicting classifications of pathogenicity | Familial thoracic aortic aneurysm and aortic dissection, Ehlers-Danlos syndrome, type 4 |