rs368239688

This variant is located in the FLNC gene.

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ClinVar annotation

Likely Benign★★★☆

5 submitters1 publication

Distal myopathy with posterior leg and anterior hand involvement;Dilated Cardiomyopathy, Dominant;Myofibrillar myopathy 5;Hypertrophic cardiomyopathy 26; not specified; not provided; Cardiovascular phenotype

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About FLNC

This gene encodes one of three related filamin genes, specifically gamma filamin. These filamin proteins crosslink actin filaments into orthogonal networks in cortical cytoplasm and participate in the anchoring of membrane proteins for the actin cytoskeleton. Three functional domains exist in filamin: an N-terminal filamentous actin-binding domain, a C-terminal self-association domain, and a membrane glycoprotein-binding domain. Mutations in this gene are a cause of cardiopathy. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2022]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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