FOXN1

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Summary

Mutations in the winged-helix transcription factor gene at the nude locus in mice and rats produce the pleiotropic phenotype of hairlessness and athymia, resulting in a severely compromised immune system. This gene is orthologous to the mouse and rat genes and encodes a similar DNA-binding transcription factor that is thought to regulate keratin gene expression. A mutation in this gene has been correlated with T-cell immunodeficiency, the skin disorder congenital alopecia, and nail dystrophy. Alternative splicing in the 5' UTR of this gene has been observed. [provided by RefSeq, Jul 2008]

Known Variants624 total

rsidPosition (GRCh37)AllelesClassClinVar
rs5986397817:26,850,905G/T—likely benign
rs48343417:26,850,929A/C—benign
rs53225560917:26,850,931T/C—likely benign
rs136302193517:26,850,946A/G—uncertain significance
rs14609170317:26,850,995C/T—uncertain significance
rs14639026217:26,850,996G/A—likely benign
rs136296661817:26,851,002C/T—likely benign
rs56901018617:26,851,004C/T—uncertain significance
rs18403735717:26,851,005G/A—likely benign
rs14886537417:26,851,007C/T—likely benign
rs37497916717:26,851,008G/A—likely benign
rs37140200817:26,851,017C/T—likely benign
rs37583964217:26,851,018G/A—uncertain significance
rs123354936317:26,851,023G/A—likely benign
rs215148630217:26,851,026G/A—likely benign
rs119113111017:26,851,027C/T—uncertain significance
rs76074316717:26,851,028C/T—uncertain significance
rs55358350717:26,851,029G/A—conflicting classifications of pathogenicity
rs96352040417:26,851,031G/A—uncertain significance
rs14351832417:26,851,037C/G—uncertain significance
rs215148633217:26,851,042C/T—likely benign
rs37001019017:26,851,043T/C—uncertain significance
rs117930566917:26,851,044G/T—likely benign
rs77941546417:26,851,045G/C—uncertain significance
rs136264939317:26,851,049G/A—uncertain significance
rs75884039017:26,851,050C/T—uncertain significance
rs54570758517:26,851,051G/T—pathogenic
rs250834783217:26,851,053G/A—likely benign
rs74539844417:26,851,054C/A—uncertain significance
rs76929476817:26,851,055G/A—uncertain significance
rs250834792217:26,851,060G/A—uncertain significance
rs77972808817:26,851,066C/T—uncertain significance
rs143952940717:26,851,067T/C—uncertain significance
rs74891234517:26,851,068C/T—likely benign
rs159755007117:26,851,069A/G—uncertain significance
rs76161486317:26,851,078C/T—uncertain significance
rs77190959217:26,851,079C/T—uncertain significance
rs77316348117:26,851,080G/A—likely benign
rs126861693017:26,851,083C/A—likely benign
rs215148643117:26,851,087C/G—uncertain significance
rs206970678517:26,851,099G/A—uncertain significance
rs37572417417:26,851,101C/T—likely benign
rs250834887217:26,851,105C/T—pathogenic
rs250834890917:26,851,107G/A—likely benign
rs122649030017:26,851,118C/A—likely benign
rs57589816117:26,851,120C/T—conflicting classifications of pathogenicity
rs7994673917:26,851,121G/A—likely benign
rs75874565317:26,851,122G/T—likely benign
rs250834906117:26,851,123C/T—likely benign
rs250834910917:26,851,128G/A—likely benign
rs61443417:26,851,501A/G—benign
rs37672751817:26,851,504A/T—uncertain significance
rs77847096217:26,851,505C/T—likely benign
rs77185293817:26,851,507C/T—uncertain significance
rs250835280317:26,851,509C/T—likely benign
rs250835282817:26,851,510T/C—likely benign
rs250835287217:26,851,512T/C—likely benign
rs76065609317:26,851,516C/T—likely benign
rs127589117917:26,851,517C/G—likely benign
rs131353791717:26,851,523G/A—uncertain significance
rs250835299917:26,851,524C/T—uncertain significance
rs121371525217:26,851,530G/A—uncertain significance
rs132526555417:26,851,536A/G—uncertain significance
rs77686443717:26,851,538C/A—uncertain significance
rs79704613517:26,851,543C/Tmissense variantpathogenic
rs14800649817:26,851,544G/A—conflicting classifications of pathogenicity
rs118201010517:26,851,547A/T—likely benign
rs76558349717:26,851,553G/A—likely benign
rs36802496817:26,851,556C/T—conflicting classifications of pathogenicity
rs20088877417:26,851,557G/A—uncertain significance
rs117416917117:26,851,558A/G—uncertain significance
rs20078696617:26,851,559C/A—uncertain significance
rs75777164117:26,851,560G/A—uncertain significance
rs104163358917:26,851,562C/T—likely benign
rs75335373017:26,851,563C/A—uncertain significance
rs14238052517:26,851,568A/G—likely benign
rs127976924617:26,851,574G/A—likely benign
rs122217647617:26,851,579C/A—uncertain significance
rs55257449617:26,851,580C/T—likely benign
rs206971921717:26,851,581T/A—uncertain significance
rs250835390217:26,851,583A/G—likely benign
rs250835393817:26,851,586G/A—likely benign
rs127863334617:26,851,590C/T—uncertain significance
rs77760841717:26,851,591C/A—uncertain significance
rs77099667517:26,851,598C/T—likely benign
rs77666652217:26,851,600C/G—uncertain significance
rs250835427117:26,851,601C/T—likely benign
rs207158717:26,851,602T/C—benign
rs37332675817:26,851,609C/T—uncertain significance
rs54485472317:26,851,610G/A—likely benign
rs142435726917:26,851,614C/T—uncertain significance
rs13851067117:26,851,622C/G—likely benign
rs14224898417:26,851,623G/A—uncertain significance
rs101301385817:26,851,625G/A—likely benign
rs118188794317:26,851,631C/A—likely benign
rs250835496417:26,851,643C/A—pathogenic
rs76477494217:26,851,649C/T—likely benign
rs75234860817:26,851,650G/A—uncertain significance
rs86844396117:26,851,651G/A—uncertain significance
rs116167718817:26,851,653C/T—uncertain significance

Showing 100 of 624 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.