COL5A1 Chromosome 9
Collagen type V alpha 1 chain
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What This Gene Does
This gene encodes an alpha chain for one of the low abundance fibrillar collagens. Fibrillar collagen molecules are trimers that can be composed of one or more types of alpha chains. Type V collagen is found in tissues containing type I collagen and appears to regulate the assembly of heterotypic fibers composed of both type I and type V collagen. This gene product is closely related to type XI collagen and it is possible that the collagen chains of types V and XI constitute a single collagen type with tissue-specific chain combinations. The encoded procollagen protein occurs commonly as the heterotrimer pro-alpha1(V)-pro-alpha1(V)-pro-alpha2(V). Mutations in this gene are associated with Ehlers-Danlos syndrome, types I and II. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, May 2013]
Gene Info
Gene Group
Fibrillar collagens
Locus Type
gene with protein product
Location
9q34.3
Ensembl
ENSG00000130635
Associated Conditions (33)
Ehlers-Danlos syndrome
classic type
1
Familial thoracic aortic aneurysm and aortic dissection
COL5A1-related disorder
See cases
Hypoparathyroidism
Fibromuscular dysplasia
multifocal
Familial cancer of breast
Thyroid cancer
nonmedullary
Connective tissue disorder
2
Clear cell carcinoma of kidney
Aortic valve disease 1
Thrombocytopenia
Abnormal bleeding
Loeys-Dietz syndrome
Cardiovascular phenotype
+13 more conditions
Key Variants
RS1001786208
Conflicting classifications of pathogenicity
Ehlers-Danlos syndrome, classic type, 1
Health Risk
RS1005244744
Conflicting classifications of pathogenicity
Ehlers-Danlos syndrome, classic type, 1
Health Risk
RS1008518818
Conflicting classifications of pathogenicity
Ehlers-Danlos syndrome, classic type, 1
Health Risk
RS1034436638
Conflicting classifications of pathogenicity
Ehlers-Danlos syndrome, classic type, 1
Health Risk
RS1047016771
Conflicting classifications of pathogenicity
Ehlers-Danlos syndrome, classic type, 1
Health Risk
RS1057518004
Conflicting classifications of pathogenicity
Ehlers-Danlos syndrome, classic type, Ehlers-Danlos syndrome
Health Risk
RS1060502245
Conflicting classifications of pathogenicity
Ehlers-Danlos syndrome, classic type, 1
Health Risk
RS1060502246
Conflicting classifications of pathogenicity
Ehlers-Danlos syndrome, classic type, 1
Health Risk
RS1060502249
Conflicting classifications of pathogenicity
Ehlers-Danlos syndrome, classic type, 1
Health Risk
RS112858705
Conflicting classifications of pathogenicity
Ehlers-Danlos syndrome, classic type, 1
Health Risk
RS1131691874
Conflicting classifications of pathogenicity
Ehlers-Danlos syndrome, classic type, 1
Health Risk
RS113452150
Conflicting classifications of pathogenicity
Ehlers-Danlos syndrome, classic type, 1
Health Risk
All Variants (654)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS780406577 | Health Risk | Conflicting classifications of pathogenicity | Ehlers-Danlos syndrome, classic type, 1 |
| RS780601499 | Health Risk | Conflicting classifications of pathogenicity | Ehlers-Danlos syndrome, classic type, 1 |
| RS780846555 | Health Risk | Conflicting classifications of pathogenicity | Ehlers-Danlos syndrome, classic type, 1 |
| RS781230603 | Health Risk | Conflicting classifications of pathogenicity | Ehlers-Danlos syndrome, classic type, 1 |
| RS781248560 | Health Risk | Conflicting classifications of pathogenicity | Ehlers-Danlos syndrome, classic type, 1 |
| RS781485753 | Health Risk | Conflicting classifications of pathogenicity | Ehlers-Danlos syndrome, classic type, 1 |
| RS781667754 | Health Risk | Conflicting classifications of pathogenicity | Ehlers-Danlos syndrome, classic type, 1 |
| RS781756159 | Health Risk | Conflicting classifications of pathogenicity | Ehlers-Danlos syndrome, classic type, 1 |
| RS79138021 | Health Risk | Conflicting classifications of pathogenicity | Ehlers-Danlos syndrome, classic type, 1 |
| RS796151769 | Health Risk | Conflicting classifications of pathogenicity | Ehlers-Danlos syndrome, classic type, 1 |
| RS863223439 | Health Risk | Conflicting classifications of pathogenicity | Ehlers-Danlos syndrome, classic type, 1 |
| RS863223440 | Health Risk | Conflicting classifications of pathogenicity | Ehlers-Danlos syndrome, classic type, 1 |
| RS863223445 | Health Risk | Conflicting classifications of pathogenicity | Ehlers-Danlos syndrome, classic type, 1 |
| RS863223451 | Health Risk | Conflicting classifications of pathogenicity | Ehlers-Danlos syndrome, classic type, 1 |
| RS863223452 | Health Risk | Conflicting classifications of pathogenicity | Ehlers-Danlos syndrome, classic type, 1 |
| RS863223459 | Health Risk | Conflicting classifications of pathogenicity | Ehlers-Danlos syndrome, classic type, 1 |
| RS863223460 | Health Risk | Conflicting classifications of pathogenicity | Ehlers-Danlos syndrome, classic type, 1 |
| RS863223461 | Health Risk | Conflicting classifications of pathogenicity | Ehlers-Danlos syndrome, classic type, 1 |
| RS863223462 | Health Risk | Conflicting classifications of pathogenicity | Ehlers-Danlos syndrome, classic type, 1 |
| RS863223463 | Health Risk | Conflicting classifications of pathogenicity | Familial thoracic aortic aneurysm and aortic dissection, Ehlers-Danlos syndrome, classic type |
| RS863223467 | Health Risk | Conflicting classifications of pathogenicity | Ehlers-Danlos syndrome, classic type, 1 |
| RS863223481 | Health Risk | Conflicting classifications of pathogenicity | Familial thoracic aortic aneurysm and aortic dissection, Ehlers-Danlos syndrome, classic type |
| RS863223482 | Health Risk | Conflicting classifications of pathogenicity | Ehlers-Danlos syndrome, classic type, 1 |
| RS869025374 | Health Risk | Conflicting classifications of pathogenicity | Marfan syndrome, Ehlers-Danlos syndrome, classic type |
| RS878853652 | Health Risk | Conflicting classifications of pathogenicity | Fibromuscular dysplasia, multifocal, Ehlers-Danlos syndrome |
| RS886038237 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS886063676 | Health Risk | Conflicting classifications of pathogenicity | Ehlers-Danlos syndrome, classic type, Familial thoracic aortic aneurysm and aortic dissection |
| RS887190843 | Health Risk | Conflicting classifications of pathogenicity | Ehlers-Danlos syndrome, classic type, 1 |
| RS900216804 | Health Risk | Conflicting classifications of pathogenicity | Ehlers-Danlos syndrome, classic type, 1 |
| RS918680618 | Health Risk | Conflicting classifications of pathogenicity | Ehlers-Danlos syndrome, classic type, 1 |
| RS926426117 | Health Risk | Conflicting classifications of pathogenicity | Ehlers-Danlos syndrome, classic type, 1 |
| RS943838033 | Health Risk | Conflicting classifications of pathogenicity | Aortic dilatation, Ehlers-Danlos syndrome, classic type |
| RS946316218 | Health Risk | Conflicting classifications of pathogenicity | Ehlers-Danlos syndrome, classic type, 1 |
| RS960627780 | Health Risk | Conflicting classifications of pathogenicity | Ehlers-Danlos syndrome, classic type, 1 |
| RS962170388 | Health Risk | Conflicting classifications of pathogenicity | Ehlers-Danlos syndrome, classic type, 1 |
| RS1057518871 | Health Risk | Likely pathogenic | 10 conditions, 10 conditions |
| RS1060502250 | Health Risk | Likely pathogenic | Ehlers-Danlos syndrome, classic type, 1 |
| RS1064794972 | Health Risk | Likely pathogenic | — |
| RS112682210 | Health Risk | Likely pathogenic | Ehlers-Danlos syndrome, classic type, 1 |
| RS1341789008 | Health Risk | Likely pathogenic | — |
| RS1554726245 | Health Risk | Likely pathogenic | Hyperextensible skin, Cigarette-paper scars, Atrophic scars |
| RS1554726251 | Health Risk | Likely pathogenic | Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection |
| RS1554781678 | Health Risk | Likely pathogenic | Ehlers-Danlos syndrome, classic type, 1 |
| RS1554781700 | Health Risk | Likely pathogenic | 13 conditions, 13 conditions |
| RS1554787526 | Health Risk | Likely pathogenic | Familial thoracic aortic aneurysm and aortic dissection, Ehlers-Danlos syndrome, classic type |
| RS1554787779 | Health Risk | Likely pathogenic | Connective tissue disorder, Connective tissue disorder |
| RS1554792005 | Health Risk | Likely pathogenic | — |
| RS1554799402 | Health Risk | Likely pathogenic | Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection |
| RS1554806670 | Health Risk | Likely pathogenic | — |
| RS1554806972 | Health Risk | Likely pathogenic | — |