rs727502791

This is a stop gained variant in the MFAP5 gene.

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ClinVar annotation

Pathogenic★☆☆☆
7 submitters5 publications

Aortic aneurysm, familial thoracic 9 (AAT9); Isolated thoracic aortic aneurysm

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About MFAP5

This gene encodes a 25-kD microfibril-associated glycoprotein which is a component of microfibrils of the extracellular matrix. The encoded protein promotes attachment of cells to microfibrils via alpha-V-beta-3 integrin. Deficiency of this gene in mice results in neutropenia. Alternate splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2014]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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