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 |
|---|---|---|---|
| RS2153501340 | Health Risk | Likely pathogenic | Ehlers-Danlos syndrome, type 4, Ehlers-Danlos syndrome |
| RS2153501643 | Health Risk | Likely pathogenic | Familial thoracic aortic aneurysm and aortic dissection, Ehlers-Danlos syndrome, type 4 |
| RS2153501733 | Health Risk | Likely pathogenic | Ehlers-Danlos syndrome, type 4, Ehlers-Danlos syndrome |
| RS2153501969 | Health Risk | Likely pathogenic | Ehlers-Danlos syndrome, type 4, Ehlers-Danlos syndrome |
| RS2153501976 | Health Risk | Likely pathogenic | Ehlers-Danlos syndrome, type 4, Ehlers-Danlos syndrome |
| RS2153502094 | Health Risk | Likely pathogenic | Familial thoracic aortic aneurysm and aortic dissection, Ehlers-Danlos syndrome, type 4 |
| RS2153502168 | Health Risk | Likely pathogenic | Ehlers-Danlos syndrome, Ehlers-Danlos syndrome |
| RS2153502271 | Health Risk | Likely pathogenic | Ehlers-Danlos syndrome, type 4, Ehlers-Danlos syndrome |
| RS2153502277 | Health Risk | Likely pathogenic | Ehlers-Danlos syndrome, type 4, Ehlers-Danlos syndrome |
| RS2153502383 | Health Risk | Likely pathogenic | Ehlers-Danlos syndrome, type 4, Ehlers-Danlos syndrome |
| RS2153502405 | Health Risk | Likely pathogenic | Ehlers-Danlos syndrome, type 4, Ehlers-Danlos syndrome |
| RS2153502406 | Health Risk | Likely pathogenic | Ehlers-Danlos syndrome, type 4, Ehlers-Danlos syndrome |
| RS2153502433 | Health Risk | Likely pathogenic | Ehlers-Danlos syndrome, type 4, Ehlers-Danlos syndrome |
| RS2153502437 | Health Risk | Likely pathogenic | Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection |
| RS2153502447 | Health Risk | Likely pathogenic | Ehlers-Danlos syndrome, type 4, Ehlers-Danlos syndrome |
| RS2153502448 | Health Risk | Likely pathogenic | Ehlers-Danlos syndrome, type 4, Ehlers-Danlos syndrome |
| RS2153502685 | Health Risk | Likely pathogenic | Ehlers-Danlos syndrome, type 4, Familial thoracic aortic aneurysm and aortic dissection |
| RS2153502803 | Health Risk | Likely pathogenic | Ehlers-Danlos syndrome, type 4, Ehlers-Danlos syndrome |
| RS2153502988 | Health Risk | Likely pathogenic | Ehlers-Danlos syndrome, type 4, Ehlers-Danlos syndrome |
| RS2153503009 | Health Risk | Likely pathogenic | Ehlers-Danlos syndrome, type 4, Ehlers-Danlos syndrome |
| RS2153503019 | Health Risk | Likely pathogenic | Ehlers-Danlos syndrome, Ehlers-Danlos syndrome |
| RS2153503066 | Health Risk | Likely pathogenic | Ehlers-Danlos syndrome, type 4, Ehlers-Danlos syndrome |
| RS2153503227 | Health Risk | Likely pathogenic | Ehlers-Danlos syndrome, type 4, Ehlers-Danlos syndrome |
| RS2153503300 | Health Risk | Likely pathogenic | Ehlers-Danlos syndrome, type 4, Ehlers-Danlos syndrome |
| RS2153503377 | Health Risk | Likely pathogenic | — |
| RS2153503462 | Health Risk | Likely pathogenic | — |
| RS2153503495 | Health Risk | Likely pathogenic | Ehlers-Danlos syndrome, type 4, Ehlers-Danlos syndrome |
| RS2153503498 | Health Risk | Likely pathogenic | Ehlers-Danlos syndrome, type 4, Ehlers-Danlos syndrome |
| RS2153503630 | Health Risk | Likely pathogenic | Ehlers-Danlos syndrome, type 4, Ehlers-Danlos syndrome |
| RS2153503790 | Health Risk | Likely pathogenic | Ehlers-Danlos syndrome, type 4, Ehlers-Danlos syndrome |
| RS2153503896 | Health Risk | Likely pathogenic | Ehlers-Danlos syndrome, type 4, Ehlers-Danlos syndrome |
| RS2153503949 | Health Risk | Likely pathogenic | Ehlers-Danlos syndrome, type 4, Ehlers-Danlos syndrome |
| RS2153504069 | Health Risk | Likely pathogenic | Familial thoracic aortic aneurysm and aortic dissection, Ehlers-Danlos syndrome, type 4 |
| RS2153504449 | Health Risk | Likely pathogenic | Ehlers-Danlos syndrome, type 4, Ehlers-Danlos syndrome |
| RS2469105653 | Health Risk | Likely pathogenic | Ehlers-Danlos syndrome, type 4, Ehlers-Danlos syndrome |
| RS2469108377 | Health Risk | Likely pathogenic | Ehlers-Danlos syndrome, type 4, Ehlers-Danlos syndrome |
| RS2469113266 | Health Risk | Likely pathogenic | Ehlers-Danlos syndrome, type 4, Ehlers-Danlos syndrome |
| RS2469113424 | Health Risk | Likely pathogenic | Ehlers-Danlos syndrome, type 4, Ehlers-Danlos syndrome |
| RS2469113459 | Health Risk | Likely pathogenic | Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection |
| RS2469118099 | Health Risk | Likely pathogenic | Ehlers-Danlos syndrome, type 4, Ehlers-Danlos syndrome |
| RS2469118675 | Health Risk | Likely pathogenic | Ehlers-Danlos syndrome, type 4, Ehlers-Danlos syndrome |
| RS2469120410 | Health Risk | Likely pathogenic | Ehlers-Danlos syndrome, type 4, Ehlers-Danlos syndrome |
| RS2469120517 | Health Risk | Likely pathogenic | Ehlers-Danlos syndrome, type 4, Ehlers-Danlos syndrome |
| RS2469123111 | Health Risk | Likely pathogenic | Ehlers-Danlos syndrome, type 4, Ehlers-Danlos syndrome |
| RS2469124806 | Health Risk | Likely pathogenic | — |
| RS2469126009 | Health Risk | Likely pathogenic | Familial thoracic aortic aneurysm and aortic dissection, Ehlers-Danlos syndrome, type 4 |
| RS2469126287 | Health Risk | Likely pathogenic | Ehlers-Danlos syndrome, type 4, Ehlers-Danlos syndrome |
| RS2469127914 | Health Risk | Likely pathogenic | Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection |
| RS2469127921 | Health Risk | Likely pathogenic | Ehlers-Danlos syndrome, type 4, Ehlers-Danlos syndrome |
| RS2469129512 | Health Risk | Likely pathogenic | Ehlers-Danlos syndrome, type 4, Familial thoracic aortic aneurysm and aortic dissection |