rs752201545

This variant is located in the FBN2 gene.

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ClinVar annotation

Conflicting Classifications
4 submitters2 publications

Congenital contractural arachnodactyly; Macular degeneration, early-onset; not provided; Familial thoracic aortic aneurysm and aortic dissection

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About FBN2

The protein encoded by this gene is a component of connective tissue microfibrils and may be involved in elastic fiber assembly. Mutations in this gene cause congenital contractural arachnodactyly. [provided by RefSeq, Jul 2008]

View all FBN2 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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