FSCN2

fascin actin-bundling protein 2, retinal

Summary

This gene encodes a member of the fascin protein family. Fascins crosslink actin into filamentous bundles within dynamic cell extensions. This family member is proposed to play a role in photoreceptor disk morphogenesis. A mutation in this gene results in one form of autosomal dominant retinitis pigmentosa and macular degeneration. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

Known Variants546 total

rsidPosition (GRCh37)AllelesClassClinVar
rs11444546417:79,485,060C/Tregulatory region variant—
rs1165263717:79,486,992C/Gregulatory region variant—
rs53802965317:79,495,562C/T—uncertain significance
rs55596696317:79,495,563G/A—likely benign
rs134813937017:79,495,565C/T—uncertain significance
rs78251893617:79,495,566G/A—likely benign
rs78266986817:79,495,569C/T—likely benign
rs78230164217:79,495,570G/A—uncertain significance
rs123039759217:79,495,571G/T—uncertain significance
rs203242549417:79,495,572C/T—likely benign
rs214384588517:79,495,573C/A—uncertain significance
rs78245009717:79,495,576C/T—uncertain significance
rs214384593917:79,495,579C/T—likely pathogenic
rs56281598917:79,495,582G/T—uncertain significance
rs131447504817:79,495,586T/C—uncertain significance
rs37703406017:79,495,587G/A—likely benign
rs78236175917:79,495,590G/A—likely benign
rs155567050717:79,495,599T/G—uncertain significance
rs214384603117:79,495,602C/T—likely benign
rs19966878017:79,495,605C/T—likely benign
rs13785390017:79,495,606G/A—likely benign
rs155567051117:79,495,609A/G—uncertain significance
rs78241499517:79,495,611C/T—conflicting classifications of pathogenicity
rs78191801117:79,495,612G/A—uncertain significance
rs20165234017:79,495,613A/T—uncertain significance
rs36899630417:79,495,621C/T—uncertain significance
rs20025877317:79,495,622G/A—uncertain significance
rs78188433217:79,495,629G/A—likely benign
rs37663337417:79,495,629——pathogenic
rs254442382917:79,495,634C/T—uncertain significance
rs37708570917:79,495,644C/G—uncertain significance
rs78180969917:79,495,645G/A—uncertain significance
rs254442386517:79,495,646G/T—uncertain significance
rs129509426717:79,495,654G/A—uncertain significance
rs78267317017:79,495,658A/G—uncertain significance
rs155567053217:79,495,664C/T—uncertain significance
rs78232291217:79,495,665G/A—likely benign
rs203243100617:79,495,677C/T—likely benign
rs55982303417:79,495,686G/T—uncertain significance
rs20092586317:79,495,687C/T—uncertain significance
rs78192369117:79,495,688A/C—uncertain significance
rs139723608917:79,495,689G/A—likely benign
rs116740070517:79,495,691C/G—uncertain significance
rs37613812717:79,495,695G/T—uncertain significance
rs155567055617:79,495,701G/A—likely benign
rs155567055717:79,495,702G/A—uncertain significance
rs20060057717:79,495,703A/C—conflicting classifications of pathogenicity
rs18451975917:79,495,707C/G—likely benign
rs79703443817:79,495,708G/A—uncertain significance
rs78189339417:79,495,710C/T—likely benign
rs78242961017:79,495,718A/G—uncertain significance
rs37443647217:79,495,724C/T—uncertain significance
rs78181701917:79,495,725G/C—likely benign
rs78263472317:79,495,727C/T—uncertain significance
rs78225716617:79,495,732C/T—likely benign
rs78267062917:79,495,738C/T—uncertain significance
rs36866522717:79,495,739G/A—uncertain significance
rs203243432317:79,495,742G/A—uncertain significance
rs203243446717:79,495,745G/A—uncertain significance
rs254442433817:79,495,750C/G—uncertain significance
rs203243454917:79,495,751T/C—uncertain significance
rs78195768017:79,495,757G/A—uncertain significance
rs214384698317:79,495,758C/T—likely benign
rs78238278317:79,495,766C/T—uncertain significance
rs19959907217:79,495,767G/T—likely benign
rs78207910717:79,495,768G/A—uncertain significance
rs214384706817:79,495,769C/T—uncertain significance
rs155567058917:79,495,774G/A—uncertain significance
rs78180230317:79,495,776G/C—uncertain significance
rs53194132817:79,495,779C/T—likely benign
rs116065183217:79,495,783C/A—uncertain significance
rs37653243717:79,495,784G/A—conflicting classifications of pathogenicity
rs78251850717:79,495,785C/T—likely benign
rs78265864717:79,495,786G/A—uncertain significance
rs56223028117:79,495,801G/A—uncertain significance
rs78221556317:79,495,803G/A—likely benign
rs37368271117:79,495,808C/T—conflicting classifications of pathogenicity
rs78264055117:79,495,809G/A—likely benign
rs78227292117:79,495,813C/T—uncertain significance
rs78241181817:79,495,814G/T—uncertain significance
rs78218758717:79,495,822C/T—uncertain significance
rs52952085517:79,495,823G/A—uncertain significance
rs254442482317:79,495,826T/A—uncertain significance
rs78211252117:79,495,839G/A—likely benign
rs78277799817:79,495,840C/T—uncertain significance
rs254442493217:79,495,842G/A—likely benign
rs254442494417:79,495,844C/T—uncertain significance
rs78201411417:79,495,852C/T—uncertain significance
rs78216585717:79,495,853G/A—uncertain significance
rs78270495217:79,495,855T/G—uncertain significance
rs78180856617:79,495,858G/A—uncertain significance
rs155567062017:79,495,860G/A—likely benign
rs124488919317:79,495,862T/C—uncertain significance
rs78248162917:79,495,864C/T—uncertain significance
rs78274167217:79,495,865G/A—conflicting classifications of pathogenicity
rs3412612917:79,495,866G/A—benign
rs53981103017:79,495,869C/T—likely benign
rs78267030317:79,495,870G/A—uncertain significance
rs203244164617:79,495,872G/C—uncertain significance
rs155567062417:79,495,873C/T—uncertain significance

Showing 100 of 546 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.