rs1483636821
This variant is located in the COL3A1 gene.
▶ClinVar annotation
About COL3A1
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]
View all COL3A1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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