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 |
|---|---|---|---|
| RS1688101794 | Health Risk | Conflicting classifications of pathogenicity | Familial thoracic aortic aneurysm and aortic dissection, Ehlers-Danlos syndrome, type 4 |
| RS1688243975 | Health Risk | Conflicting classifications of pathogenicity | Ehlers-Danlos syndrome, type 4, Familial thoracic aortic aneurysm and aortic dissection |
| RS1688273707 | Health Risk | Conflicting classifications of pathogenicity | Familial thoracic aortic aneurysm and aortic dissection, Ehlers-Danlos syndrome, type 4 |
| RS1688502787 | Health Risk | Conflicting classifications of pathogenicity | Ehlers-Danlos syndrome, type 4, Familial thoracic aortic aneurysm and aortic dissection |
| RS1688561621 | Health Risk | Conflicting classifications of pathogenicity | Ehlers-Danlos syndrome, type 4, Ehlers-Danlos syndrome |
| RS1688583785 | Health Risk | Conflicting classifications of pathogenicity | Familial thoracic aortic aneurysm and aortic dissection, Ehlers-Danlos syndrome, type 4 |
| RS1688630479 | Health Risk | Conflicting classifications of pathogenicity | Ehlers-Danlos syndrome, type 4, Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome |
| RS1801183 | Health Risk | Conflicting classifications of pathogenicity | Ehlers-Danlos syndrome, type 4, Familial thoracic aortic aneurysm and aortic dissection |
| RS189483688 | Health Risk | Conflicting classifications of pathogenicity | Ehlers-Danlos syndrome, type 4, Familial thoracic aortic aneurysm and aortic dissection |
| RS200246388 | Health Risk | Conflicting classifications of pathogenicity | Ehlers-Danlos syndrome, type 4, Familial thoracic aortic aneurysm and aortic dissection |
| RS200394946 | Health Risk | Conflicting classifications of pathogenicity | Ehlers-Danlos syndrome, type 4, Familial thoracic aortic aneurysm and aortic dissection |
| RS201220788 | Health Risk | Conflicting classifications of pathogenicity | Ehlers-Danlos syndrome, type 4, Familial thoracic aortic aneurysm and aortic dissection |
| RS201380807 | Health Risk | Conflicting classifications of pathogenicity | Ehlers-Danlos syndrome, type 4, Connective tissue disorder |
| RS201468881 | Health Risk | Conflicting classifications of pathogenicity | Familial thoracic aortic aneurysm and aortic dissection, Ehlers-Danlos syndrome, type 4 |
| RS201839712 | Health Risk | Conflicting classifications of pathogenicity | Ehlers-Danlos syndrome, type 4, Familial thoracic aortic aneurysm and aortic dissection |
| RS201880122 | Health Risk | Conflicting classifications of pathogenicity | Ehlers-Danlos syndrome, type 4, Familial thoracic aortic aneurysm and aortic dissection |
| RS201980471 | Health Risk | Conflicting classifications of pathogenicity | Ehlers-Danlos syndrome, type 4, Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome |
| RS2153501467 | Health Risk | Conflicting classifications of pathogenicity | Ehlers-Danlos syndrome, type 4, Familial thoracic aortic aneurysm and aortic dissection |
| RS2153501731 | Health Risk | Conflicting classifications of pathogenicity | Ehlers-Danlos syndrome, type 4, Ehlers-Danlos syndrome |
| RS2153502692 | Health Risk | Conflicting classifications of pathogenicity | Ehlers-Danlos syndrome, type 4, Ehlers-Danlos syndrome |
| RS2153503988 | Health Risk | Conflicting classifications of pathogenicity | Familial thoracic aortic aneurysm and aortic dissection, Ehlers-Danlos syndrome, type 4 |
| RS2469141143 | Health Risk | Conflicting classifications of pathogenicity | Ehlers-Danlos syndrome, type 4, Ehlers-Danlos syndrome |
| RS2469145031 | Health Risk | Conflicting classifications of pathogenicity | Ehlers-Danlos syndrome, type 4, Ehlers-Danlos syndrome |
| RS2469152253 | Health Risk | Conflicting classifications of pathogenicity | Ehlers-Danlos syndrome, type 4, Ehlers-Danlos syndrome |
| RS2469165958 | Health Risk | Conflicting classifications of pathogenicity | Ehlers-Danlos syndrome, type 4, Ehlers-Danlos syndrome |
| RS2469170038 | Health Risk | Conflicting classifications of pathogenicity | Familial thoracic aortic aneurysm and aortic dissection, Ehlers-Danlos syndrome, type 4 |
| RS2469172850 | Health Risk | Conflicting classifications of pathogenicity | Ehlers-Danlos syndrome, type 4, Ehlers-Danlos syndrome |
| RS367754862 | Health Risk | Conflicting classifications of pathogenicity | Ehlers-Danlos syndrome, type 4, Familial thoracic aortic aneurysm and aortic dissection |
| RS367789349 | Health Risk | Conflicting classifications of pathogenicity | Ehlers-Danlos syndrome, type 4, Ehlers-Danlos syndrome |
| RS367872728 | Health Risk | Conflicting classifications of pathogenicity | Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection |
| RS368117488 | Health Risk | Conflicting classifications of pathogenicity | Ehlers-Danlos syndrome, type 4, Familial thoracic aortic aneurysm and aortic dissection |
| RS368889070 | Health Risk | Conflicting classifications of pathogenicity | Ehlers-Danlos syndrome, type 4, Familial thoracic aortic aneurysm and aortic dissection |
| RS369796561 | Health Risk | Conflicting classifications of pathogenicity | Ehlers-Danlos syndrome, type 4, Ehlers-Danlos syndrome |
| RS370069953 | Health Risk | Conflicting classifications of pathogenicity | Familial thoracic aortic aneurysm and aortic dissection, Ehlers-Danlos syndrome, type 4 |
| RS370292679 | Health Risk | Conflicting classifications of pathogenicity | Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome, Familial thoracic aortic aneurysm and aortic dissection, Ehlers-Danlos syndrome |
| RS371344739 | Health Risk | Conflicting classifications of pathogenicity | Ehlers-Danlos syndrome, type 4, Familial thoracic aortic aneurysm and aortic dissection |
| RS371583734 | Health Risk | Conflicting classifications of pathogenicity | Ehlers-Danlos syndrome, type 4, Familial thoracic aortic aneurysm and aortic dissection |
| RS372269408 | Health Risk | Conflicting classifications of pathogenicity | Ehlers-Danlos syndrome, type 4, Familial thoracic aortic aneurysm and aortic dissection |
| RS372329498 | Health Risk | Conflicting classifications of pathogenicity | Familial thoracic aortic aneurysm and aortic dissection, Ehlers-Danlos syndrome, type 4 |
| RS372405344 | Health Risk | Conflicting classifications of pathogenicity | Ehlers-Danlos syndrome, type 4, Ehlers-Danlos syndrome |
| RS373343032 | Health Risk | Conflicting classifications of pathogenicity | Ehlers-Danlos syndrome, type 4, Familial thoracic aortic aneurysm and aortic dissection |
| RS373838193 | Health Risk | Conflicting classifications of pathogenicity | Ehlers-Danlos syndrome, type 4, Familial thoracic aortic aneurysm and aortic dissection |
| RS373963384 | Health Risk | Conflicting classifications of pathogenicity | Ehlers-Danlos syndrome, type 4, Familial thoracic aortic aneurysm and aortic dissection |
| RS374452484 | Health Risk | Conflicting classifications of pathogenicity | Ehlers-Danlos syndrome, type 4, Familial thoracic aortic aneurysm and aortic dissection |
| RS374476865 | Health Risk | Conflicting classifications of pathogenicity | Ehlers-Danlos syndrome, type 4, Familial thoracic aortic aneurysm and aortic dissection |
| RS374527092 | Health Risk | Conflicting classifications of pathogenicity | Ehlers-Danlos syndrome, type 4, Familial thoracic aortic aneurysm and aortic dissection |
| RS374537884 | Health Risk | Conflicting classifications of pathogenicity | Ehlers-Danlos syndrome, type 4, Familial thoracic aortic aneurysm and aortic dissection |
| RS376171095 | Health Risk | Conflicting classifications of pathogenicity | Connective tissue disorder, Ehlers-Danlos syndrome, type 4 |
| RS376525602 | Health Risk | Conflicting classifications of pathogenicity | Familial thoracic aortic aneurysm and aortic dissection, Ehlers-Danlos syndrome, type 4 |
| RS376643618 | Health Risk | Conflicting classifications of pathogenicity | Ehlers-Danlos syndrome, type 4, See cases |