rs759158292
This variant is located in the FLNC gene.
▶ClinVar annotation
Distal myopathy with posterior leg and anterior hand involvement;Hypertrophic cardiomyopathy 26;Myofibrillar myopathy 5;Dilated Cardiomyopathy, Dominant
View on ClinVar →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]
View all FLNC variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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