rs2291569
This is a variant in the FLNC gene that changes a arginine to an glutamine.
▶GWAS Catalog Trait Associations (1)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (1)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
dilated cardiomyopathy
▶ClinVar annotation
Cardiovascular phenotype; Dilated Cardiomyopathy, Dominant; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Myofibrillar myopathy 5; not specified
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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