rs2153501359

This variant is located in the COL3A1 gene.

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ClinVar annotation

Uncertain Significance★☆☆☆
1 submitter1 publication

Familial thoracic aortic aneurysm and aortic dissection

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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]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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