rs369273712

This variant is located in the FLNB gene.

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ClinVar annotation

Uncertain Significance★★★☆

2 submitters1 publication

not provided; Inborn genetic diseases

About FLNB

This gene encodes a member of the filamin family. The encoded protein interacts with glycoprotein Ib alpha as part of the process to repair vascular injuries. The platelet glycoprotein Ib complex includes glycoprotein Ib alpha, and it binds the actin cytoskeleton. Mutations in this gene have been found in several conditions: atelosteogenesis type 1 and type 3; boomerang dysplasia; autosomal dominant Larsen syndrome; and spondylocarpotarsal synostosis syndrome. Multiple alternatively spliced transcript variants that encode different protein isoforms have been described for this gene. [provided by RefSeq, Nov 2009]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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