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 |
|---|---|---|---|
| RS775003113 | Health Risk | Conflicting classifications of pathogenicity | Familial thoracic aortic aneurysm and aortic dissection, Ehlers-Danlos syndrome, type 4 |
| RS775562650 | Health Risk | Conflicting classifications of pathogenicity | Familial thoracic aortic aneurysm and aortic dissection, Ehlers-Danlos syndrome, type 4 |
| RS775636888 | Health Risk | Conflicting classifications of pathogenicity | Familial thoracic aortic aneurysm and aortic dissection, Ehlers-Danlos syndrome, type 4 |
| RS776478974 | Health Risk | Conflicting classifications of pathogenicity | Ehlers-Danlos syndrome, type 4, Familial thoracic aortic aneurysm and aortic dissection |
| RS776819930 | Health Risk | Conflicting classifications of pathogenicity | Ehlers-Danlos syndrome, type 4, Ehlers-Danlos syndrome |
| RS777361888 | Health Risk | Conflicting classifications of pathogenicity | Ehlers-Danlos syndrome, type 4, Familial thoracic aortic aneurysm and aortic dissection |
| RS779018915 | Health Risk | Conflicting classifications of pathogenicity | Familial thoracic aortic aneurysm and aortic dissection, Ehlers-Danlos syndrome, type 4 |
| RS779774302 | Health Risk | Conflicting classifications of pathogenicity | Ehlers-Danlos syndrome, type 4, Familial thoracic aortic aneurysm and aortic dissection |
| RS780260944 | Health Risk | Conflicting classifications of pathogenicity | Ehlers-Danlos syndrome, type 4, Familial thoracic aortic aneurysm and aortic dissection |
| RS780921226 | Health Risk | Conflicting classifications of pathogenicity | Familial thoracic aortic aneurysm and aortic dissection, Ehlers-Danlos syndrome, type 4 |
| RS781662866 | Health Risk | Conflicting classifications of pathogenicity | Ehlers-Danlos syndrome, type 4, Familial thoracic aortic aneurysm and aortic dissection |
| RS794727586 | Health Risk | Conflicting classifications of pathogenicity | Ehlers-Danlos syndrome, type 4, Familial thoracic aortic aneurysm and aortic dissection |
| RS794728045 | Health Risk | Conflicting classifications of pathogenicity | Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection |
| RS886038228 | Health Risk | Conflicting classifications of pathogenicity | Connective tissue disorder, Familial thoracic aortic aneurysm and aortic dissection, Ehlers-Danlos syndrome |
| RS886038816 | Health Risk | Conflicting classifications of pathogenicity | Cardiovascular phenotype, Cardiovascular phenotype |
| RS886038849 | Health Risk | Conflicting classifications of pathogenicity | Ehlers-Danlos syndrome, type 4, Familial thoracic aortic aneurysm and aortic dissection |
| RS886038895 | Health Risk | Conflicting classifications of pathogenicity | Cardiovascular phenotype, Ehlers-Danlos syndrome, type 4 |
| RS886038983 | Health Risk | Conflicting classifications of pathogenicity | Familial thoracic aortic aneurysm and aortic dissection, Ehlers-Danlos syndrome, type 4 |
| RS886055330 | Health Risk | Conflicting classifications of pathogenicity | Ehlers-Danlos syndrome, type 4, Familial thoracic aortic aneurysm and aortic dissection |
| RS886055332 | Health Risk | Conflicting classifications of pathogenicity | Ehlers-Danlos syndrome, type 4, Familial thoracic aortic aneurysm and aortic dissection |
| RS950435405 | Health Risk | Conflicting classifications of pathogenicity | Ehlers-Danlos syndrome, type 4, Ehlers-Danlos syndrome |
| RS975159988 | Health Risk | Conflicting classifications of pathogenicity | Familial thoracic aortic aneurysm and aortic dissection, Ehlers-Danlos syndrome, type 4 |
| RS982619356 | Health Risk | Conflicting classifications of pathogenicity | Ehlers-Danlos syndrome, type 4, Ehlers-Danlos syndrome |
| RS992793284 | Health Risk | Conflicting classifications of pathogenicity | Ehlers-Danlos syndrome, type 4, Familial thoracic aortic aneurysm and aortic dissection |
| RS998965783 | Health Risk | Conflicting classifications of pathogenicity | Ehlers-Danlos syndrome, type 4, Familial thoracic aortic aneurysm and aortic dissection |
| RS1057521930 | Health Risk | Likely pathogenic | Familial aortopathy, Familial aortopathy |
| RS1057523593 | Health Risk | Likely pathogenic | — |
| RS1057524653 | Health Risk | Likely pathogenic | Ehlers-Danlos syndrome, type 4, Ehlers-Danlos syndrome |
| RS1060500193 | Health Risk | Likely pathogenic | Ehlers-Danlos syndrome, type 4, Ehlers-Danlos syndrome |
| RS1060500194 | Health Risk | Likely pathogenic | Ehlers-Danlos syndrome, type 4, Ehlers-Danlos syndrome |
| RS1064796468 | Health Risk | Likely pathogenic | — |
| RS1064796733 | Health Risk | Likely pathogenic | — |
| RS1064797017 | Health Risk | Likely pathogenic | Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection |
| RS1085307896 | Health Risk | Likely pathogenic | Ehlers-Danlos syndrome, type 4, Ehlers-Danlos syndrome |
| RS111929073 | Health Risk | Likely pathogenic | Ehlers-Danlos syndrome, type 4, Familial thoracic aortic aneurysm and aortic dissection |
| RS112456072 | Health Risk | Likely pathogenic | Ehlers-Danlos syndrome, type 4, Ehlers-Danlos syndrome |
| RS1131692024 | Health Risk | Likely pathogenic | — |
| RS113871730 | Health Risk | Likely pathogenic | Ehlers-Danlos syndrome, type 4, Ehlers-Danlos syndrome |
| RS1158155272 | Health Risk | Likely pathogenic | Ehlers-Danlos syndrome, type 4, Ehlers-Danlos syndrome |
| RS1173194734 | Health Risk | Likely pathogenic | Ehlers-Danlos syndrome, type 4, Ehlers-Danlos syndrome |
| RS1193008774 | Health Risk | Likely pathogenic | Ehlers-Danlos syndrome, type 4, Ehlers-Danlos syndrome |
| RS121912919 | Health Risk | Likely pathogenic | Ehlers-Danlos syndrome, type 4, Ehlers-Danlos syndrome |
| RS121912921 | Health Risk | Likely pathogenic | Ehlers-Danlos syndrome, type 4, Ehlers-Danlos syndrome |
| RS121912923 | Health Risk | Likely pathogenic | Ehlers-Danlos syndrome, type 4, Familial thoracic aortic aneurysm and aortic dissection |
| RS121912925 | Health Risk | Likely pathogenic | Ehlers-Danlos syndrome, type 4, Ehlers-Danlos syndrome |
| RS1234344050 | Health Risk | Likely pathogenic | POLYMICROGYRIA WITHOUT VASCULAR-TYPE EHLERS-DANLOS SYNDROME, Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome, Ehlers-Danlos syndrome |
| RS1333066574 | Health Risk | Likely pathogenic | Ehlers-Danlos syndrome, type 4, Ehlers-Danlos syndrome |
| RS1360092016 | Health Risk | Likely pathogenic | Ehlers-Danlos syndrome, type 4, Ehlers-Danlos syndrome |
| RS1430509325 | Health Risk | Likely pathogenic | Ehlers-Danlos syndrome, type 4, Familial aortopathy |
| RS1459137122 | Health Risk | Likely pathogenic | Ehlers-Danlos syndrome, type 4, Ehlers-Danlos syndrome |