rs527433112
This variant is located in the COL5A2 gene.
▶ClinVar annotation
Connective tissue disorder; Ehlers-Danlos syndrome, classic type, 2; not provided; Ehlers-Danlos syndrome; Ehlers-Danlos syndrome, classic type, 1; Familial thoracic aortic aneurysm and aortic dissection; not specified
View on ClinVar →About COL5A2
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. Mutations in this gene are associated with Ehlers-Danlos syndrome, types I and II. [provided by RefSeq, Jul 2008]
View all COL5A2 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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