FLNC

filamin C

Summary

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]

Known Variants3,819 total

rsidPosition (GRCh37)AllelesClassClinVar
rs38071327:128,469,484T/Cregulatory region variant—
rs38071337:128,469,760G/Aregulatory region variant—
rs624796257:128,470,376C/T—benign
rs24722907:128,470,462C/A—benign
rs26391387:128,470,482G/A—benign
rs5729323067:128,470,493A/G—likely benign
rs3764906447:128,470,656G/T—likely benign
rs3709436227:128,470,663C/T—likely benign
rs1998426967:128,470,680G/T—likely benign
rs7768365367:128,470,690G/A—uncertain significance
rs25366046547:128,470,695A/G—uncertain significance
rs25366046577:128,470,696T/C—uncertain significance
rs25366046647:128,470,702A/G—uncertain significance
rs21289320757:128,470,704A/G—uncertain significance
rs7596323307:128,470,706C/A—conflicting classifications of pathogenicity
rs12847613567:128,470,707G/C—uncertain significance
rs12345602497:128,470,708G/A—conflicting classifications of pathogenicity
rs8960680487:128,470,710T/G—uncertain significance
rs2011795967:128,470,712C/T—likely benign
rs5448757977:128,470,713T/C—likely benign
rs3705126427:128,470,722G/A—conflicting classifications of pathogenicity
rs18078488917:128,470,724C/A—likely benign
rs7603185197:128,470,728G/A—uncertain significance
rs13993813167:128,470,733G/A—likely benign
rs12632438887:128,470,734G/A—uncertain significance
rs7660811277:128,470,735G/T—uncertain significance
rs21289320967:128,470,736C/T—likely benign
rs18078496157:128,470,737G/T—uncertain significance
rs18078497067:128,470,738A/G—conflicting classifications of pathogenicity
rs18078497937:128,470,740G/A—uncertain significance
rs7534905287:128,470,742G/A—likely benign
rs7544685967:128,470,748C/T—likely benign
rs14789188087:128,470,750A/C—uncertain significance
rs25366048107:128,470,751G/A—likely benign
rs11740426737:128,470,752A/G—conflicting classifications of pathogenicity
rs3688120437:128,470,755C/T—conflicting classifications of pathogenicity
rs9087570957:128,470,756C/G—uncertain significance
rs15851476767:128,470,757G/A—likely benign
rs25366049557:128,470,761A/C—uncertain significance
rs12510480067:128,470,762C/A—uncertain significance
rs10230547327:128,470,763G/A—likely benign
rs15629888437:128,470,767A/G—uncertain significance
rs21289321117:128,470,768A/C—uncertain significance
rs13183163757:128,470,772C/A—conflicting classifications of pathogenicity
rs3721545087:128,470,775G/A—likely benign
rs21289321147:128,470,777C/A—likely pathogenic
rs21289321167:128,470,779G/A—uncertain significance
rs25366050197:128,470,782G/A—uncertain significance
rs25366050237:128,470,783A/T—uncertain significance
rs21289321207:128,470,786C/T—uncertain significance
rs3682396887:128,470,787G/A—likely benign
rs13046639737:128,470,790G/A—likely benign
rs25366050437:128,470,791T/G—uncertain significance
rs21289321267:128,470,793G/A—pathogenic
rs18078523137:128,470,799G/A—likely benign
rs25366050687:128,470,800A/G—uncertain significance
rs25366050807:128,470,801T/G—uncertain significance
rs15851477087:128,470,804A/T—uncertain significance
rs25366051117:128,470,813C/T—uncertain significance
rs25366051167:128,470,814A/T—likely benign
rs7777066837:128,470,816T/C—uncertain significance
rs7468571107:128,470,817C/T—likely benign
rs18078529477:128,470,818A/C—uncertain significance
rs25366051497:128,470,820G/T—likely benign
rs21289321377:128,470,821C/T—uncertain significance
rs18078531367:128,470,822G/T—uncertain significance
rs25366051797:128,470,824T/A—uncertain significance
rs25366051877:128,470,830A/G—uncertain significance
rs7708619917:128,470,831A/G—conflicting classifications of pathogenicity
rs13319551107:128,470,832T/C—likely benign
rs37349727:128,470,838C/T—benign
rs21289321477:128,470,839C/G—uncertain significance
rs18078543197:128,470,843A/G—uncertain significance
rs12187848137:128,470,844G/A—likely benign
rs14523077817:128,470,848G/T—uncertain significance
rs10321526787:128,470,852G/T—uncertain significance
rs7698702857:128,470,854A/C—uncertain significance
rs25366052597:128,470,857C/G—uncertain significance
rs25366052707:128,470,859C/T—likely benign
rs15851477747:128,470,861T/C—uncertain significance
rs25366052827:128,470,862G/C—likely benign
rs9560926857:128,470,863A/G—uncertain significance
rs7634882907:128,470,865C/G—likely benign
rs11642969037:128,470,867A/G—uncertain significance
rs18078558917:128,470,870T/A—uncertain significance
rs21289321617:128,470,872C/T—pathogenic
rs7746883967:128,470,875C/A—uncertain significance
rs13087710657:128,470,876G/A—uncertain significance
rs7620952597:128,470,878G/T—uncertain significance
rs11725705827:128,470,883C/G—likely benign
rs12584594597:128,470,884A/G—uncertain significance
rs7591582927:128,470,886C/A—uncertain significance
rs13732457497:128,470,887G/T—uncertain significance
rs21289321747:128,470,888A/G—uncertain significance
rs7647726797:128,470,889C/T—likely benign
rs25366053817:128,470,890G/A—uncertain significance
rs18078576877:128,470,891G/T—uncertain significance
rs7522136337:128,470,895C/G—likely benign
rs7583421407:128,470,896C/T—conflicting classifications of pathogenicity
rs25366054047:128,470,898G/C—likely benign

Showing 100 of 3,819 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.