FLG

filaggrin

Summary

The protein encoded by this gene is an intermediate filament-associated protein that aggregates keratin intermediate filaments in mammalian epidermis. It is initially synthesized as a polyprotein precursor, profilaggrin (consisting of multiple filaggrin units of 324 aa each), which is localized in keratohyalin granules, and is subsequently proteolytically processed into individual functional filaggrin molecules. Mutations in this gene are associated with ichthyosis vulgaris.[provided by RefSeq, Dec 2009]

Known Variants1,141 total

rsidPosition (GRCh37)AllelesClassClinVar
rs120711811:152,274,997G/A—benign
rs16516841791:152,275,192T/C—uncertain significance
rs7469544781:152,275,217G/A—likely benign
rs16516866101:152,275,234C/T—uncertain significance
rs1174407801:152,275,272C/T—likely benign
rs763306651:152,275,273G/C—uncertain significance
rs5526960971:152,275,294T/A—uncertain significance
rs1464662421:152,275,298T/A—conflicting classifications of pathogenicity
rs3702950341:152,275,305C/T—likely benign
rs25251276471:152,275,358T/C—uncertain significance
rs7568460551:152,275,366A/G—uncertain significance
rs1419475621:152,275,373C/G—uncertain significance
rs1506444051:152,275,410A/T—pathogenic
rs2010929221:152,275,421T/C—conflicting classifications of pathogenicity
rs38142991:152,275,453G/Amissense variantbenign
rs1446433751:152,275,482A/G—likely benign
rs1411459331:152,275,523G/T—uncertain significance
rs9214306101:152,275,535C/T—uncertain significance
rs31260651:152,275,559A/Gmissense variantbenign
rs2021499561:152,275,579T/G—uncertain significance
rs3698323271:152,275,639T/C—uncertain significance
rs38143001:152,275,640C/Tmissense variant—
rs5545510561:152,275,642C/T—likely benign
rs25251302481:152,275,648G/A—uncertain significance
rs25251305171:152,275,678G/A—uncertain significance
rs1411280221:152,275,688G/A—likely benign
rs2005575011:152,275,701A/C—uncertain significance
rs7630820251:152,275,726C/T—likely benign
rs5468715921:152,275,727G/Astop gainedpathogenic
rs1421153471:152,275,740C/G—uncertain significance
rs16517136341:152,275,751C/T—uncertain significance
rs5733888051:152,275,787G/A—pathogenic
rs741294471:152,275,789C/Amissense variantlikely benign
rs1440229041:152,275,795C/T—uncertain significance
rs8671139911:152,275,808C/T—uncertain significance
rs1504969301:152,275,810G/A—likely benign
rs16517179331:152,275,823G/A—uncertain significance
rs2018118911:152,275,825C/T—uncertain significance
rs10575182121:152,275,834G/Cstop gainedpathogenic
rs1392793641:152,275,868C/T—likely benign
rs1450797501:152,275,876C/T—likely benign
rs75371471:152,275,877G/A—benign
rs1404649881:152,275,883C/A—likely benign
rs1995654691:152,275,898C/T—conflicting classifications of pathogenicity
rs1486069361:152,275,910G/Astop gainedpathogenic
rs1462121221:152,275,922G/A—conflicting classifications of pathogenicity
rs3710595121:152,275,923T/G—likely benign
rs1440467181:152,275,960T/G—uncertain significance
rs5622013691:152,275,982G/T—uncertain significance
rs5774637851:152,276,022C/T—likely benign
rs2003068071:152,276,045A/G—likely benign
rs1465917381:152,276,050C/A—conflicting classifications of pathogenicity
rs7717705301:152,276,063C/T—uncertain significance
rs2016564401:152,276,073C/T—likely benign
rs16517380791:152,276,096C/T—uncertain significance
rs5639059241:152,276,103C/A—uncertain significance
rs7691889151:152,276,113G/A—uncertain significance
rs3721790151:152,276,114C/T—uncertain significance
rs7741290891:152,276,116G/Cstop gainedpathogenic
rs1415196471:152,276,127G/T—uncertain significance
rs1424216441:152,276,135G/A—pathogenic
rs7742133181:152,276,145G/C—uncertain significance
rs774228311:152,276,149C/T—benign
rs5624742151:152,276,150G/A—uncertain significance
rs3731686941:152,276,155C/A—uncertain significance
rs1452997771:152,276,164C/A—conflicting classifications of pathogenicity
rs5710145031:152,276,165C/G—uncertain significance
rs7491826531:152,276,172A/G—likely benign
rs7688886091:152,276,185C/G—uncertain significance
rs7629919881:152,276,192G/T—uncertain significance
rs7517205771:152,276,200T/C—uncertain significance
rs7580446221:152,276,261C/T—uncertain significance
rs5557102091:152,276,272C/T—likely benign
rs557070241:152,276,282C/G—likely benign
rs5400315631:152,276,289G/A—likely benign
rs2001779201:152,276,298A/G—likely benign
rs1436944961:152,276,305C/G—uncertain significance
rs12040971111:152,276,306C/T—uncertain significance
rs7780538621:152,276,315C/T—uncertain significance
rs5738604551:152,276,316G/A—likely benign
rs7794468011:152,276,320G/A—uncertain significance
rs7609100161:152,276,338T/G—uncertain significance
rs2019354931:152,276,343G/C—uncertain significance
rs2020768181:152,276,362C/T—uncertain significance
rs7557181081:152,276,366C/T—uncertain significance
rs752350531:152,276,377C/G—likely benign
rs1996557991:152,276,386G/T—likely benign
rs7490837591:152,276,393G/Cmissense variantpathogenic
rs1500101901:152,276,437A/G—likely benign
rs25251359821:152,276,438T/A—uncertain significance
rs7614676891:152,276,455C/G—uncertain significance
rs754481551:152,276,459C/T—benign
rs7813645661:152,276,472G/C—uncertain significance
rs5670794101:152,276,476T/C—likely benign
rs1999330551:152,276,490C/G—uncertain significance
rs16517694321:152,276,513G/A—likely pathogenic
rs13234834111:152,276,524G/A—uncertain significance
rs1413686511:152,276,545G/A—conflicting classifications of pathogenicity
rs1996950951:152,276,551T/C—uncertain significance
rs2002490111:152,276,555C/T—likely benign

Showing 100 of 1,141 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.