rs748795143

This variant is located in the MFAP5 gene.

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ClinVar annotation

Conflicting Classifications
3 submitters1 publication

not provided; Cardiovascular phenotype

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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]

View all MFAP5 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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