NKX2-1

NK2 homeobox 1

Summary

This gene encodes a protein initially identified as a thyroid-specific transcription factor. The encoded protein binds to the thyroglobulin promoter and regulates the expression of thyroid-specific genes but has also been shown to regulate the expression of genes involved in morphogenesis. Mutations and deletions in this gene are associated with benign hereditary chorea, choreoathetosis, congenital hypothyroidism, and neonatal respiratory distress, and may be associated with thyroid cancer. Multiple transcript variants encoding different isoforms have been found for this gene. This gene shares the symbol/alias 'TTF1' with another gene, transcription termination factor 1, which plays a role in ribosomal gene transcription. [provided by RefSeq, Feb 2014]

Known Variants202 total

rsidPosition (GRCh37)AllelesClassClinVar
rs94428914:36,049,516C/Tintergenic variant—
rs88605047714:36,985,663T/C—uncertain significance
rs250262223414:36,985,757C/G—uncertain significance
rs56691628814:36,985,904G/C—benign
rs104568688714:36,985,906G/A—uncertain significance
rs88605047814:36,985,939C/T—uncertain significance
rs145240982514:36,985,947G/A—uncertain significance
rs88605047914:36,986,013T/C—uncertain significance
rs7984996714:36,986,047T/G—benign
rs1013962514:36,986,273A/T—benign
rs57254689714:36,986,274A/T—benign
rs55091215714:36,986,304A/G—benign
rs56452132014:36,986,340G/T—likely benign
rs75554297014:36,986,469G/A—likely benign
rs106479381914:36,986,483T/Gstop lostpathogenic
rs88605048114:36,986,489G/A—conflicting classifications of pathogenicity
rs88603840414:36,986,498G/A—likely benign
rs213940525414:36,986,502A/G—uncertain significance
rs93156304214:36,986,516G/A—uncertain significance
rs56685471714:36,986,528G/T—uncertain significance
rs37140463814:36,986,534C/G—likely benign
rs76667016014:36,986,537G/T—likely benign
rs75535089614:36,986,552G/T—uncertain significance
rs75658212414:36,986,558C/G—likely benign
rs213940552814:36,986,580A/T—uncertain significance
rs53720998314:36,986,583G/Amissense variantpathogenic
rs14754234714:36,986,596C/A—likely benign
rs76866632314:36,986,607G/A—uncertain significance
rs213940572314:36,986,616G/C—uncertain significance
rs250262598214:36,986,619G/A—uncertain significance
rs213940574214:36,986,623G/A—pathogenic
rs37741776814:36,986,627T/G—likely benign
rs20056056814:36,986,635C/T—conflicting classifications of pathogenicity
rs129263836314:36,986,660A/G—likely benign
rs188108184514:36,986,665C/T—uncertain significance
rs188108248114:36,986,674C/T—uncertain significance
rs136439012214:36,986,684G/A—likely benign
rs117051809014:36,986,693C/G—likely benign
rs122860839214:36,986,694G/T—uncertain significance
rs102607126714:36,986,708C/A—likely benign
rs188108561914:36,986,714C/G—uncertain significance
rs146537080614:36,986,723G/C—conflicting classifications of pathogenicity
rs250262676814:36,986,724T/C—uncertain significance
rs159440345314:36,986,728G/T—uncertain significance
rs250262685814:36,986,736T/G—uncertain significance
rs159440347314:36,986,738C/T—likely benign
rs74551038014:36,986,748C/T—uncertain significance
rs88605048214:36,986,764C/A—uncertain significance
rs106492214:36,986,771C/A—uncertain significance
rs188109201814:36,986,778G/T—uncertain significance
rs98178544514:36,986,779C/G—uncertain significance
rs75801082414:36,986,783C/G—benign
rs77973604114:36,986,793G/A—uncertain significance
rs86614451114:36,986,799C/T—uncertain significance
rs213940658714:36,986,810C/T—likely benign
rs105751922314:36,986,817G/Cmissense variantpathogenic
rs74678001814:36,986,822C/T—likely benign
rs99174016914:36,986,841T/A—uncertain significance
rs123975664914:36,986,864C/A—likely benign
rs213940683714:36,986,867G/T—likely pathogenic
rs118770151614:36,986,868C/G—uncertain significance
rs122748890514:36,986,872C/A—uncertain significance
rs88605048314:36,986,873G/A—uncertain significance
rs139833111914:36,986,879C/G—likely benign
rs100119460814:36,986,880C/T—uncertain significance
rs134999863314:36,986,890C/T—uncertain significance
rs188110325014:36,986,903G/A—uncertain significance
rs213940708614:36,986,908G/T—uncertain significance
rs250262829814:36,986,932T/G—uncertain significance
rs13785269414:36,986,944G/Astop gainedpathogenic
rs250262843214:36,986,956T/A—likely pathogenic
rs105752486914:36,986,961C/Tmissense variantpathogenic
rs2893667114:36,986,962G/Amissense variantpathogenic
rs75769428214:36,986,965G/C—likely pathogenic
rs159440399014:36,986,975C/T—pathogenic
rs2893667214:36,986,976C/Amissense variantpathogenic
rs250262856814:36,986,978G/C—pathogenic
rs213940729714:36,986,985A/G—likely pathogenic
rs13785269214:36,986,986C/Amissense variantpathogenic
rs250262861614:36,986,988T/A—likely pathogenic
rs159440401514:36,986,991G/A—uncertain significance
rs188110718614:36,986,994G/A—pathogenic
rs213940738214:36,987,007T/A—uncertain significance
rs75115163714:36,987,012C/G—uncertain significance
rs213940742014:36,987,015G/T—uncertain significance
rs155534920914:36,987,025C/A—pathogenic
rs213940747514:36,987,027C/G—uncertain significance
rs213940748814:36,987,031C/T—likely pathogenic
rs77888626914:36,987,032C/T—likely benign
rs57248469014:36,987,038C/G—likely benign
rs144737956414:36,987,039G/T—pathogenic
rs156661544414:36,987,044G/C—pathogenic
rs250262904314:36,987,045T/C—uncertain significance
rs88604146614:36,987,052G/Astop gainedpathogenic
rs155534921814:36,987,054T/G—conflicting classifications of pathogenicity
rs77583786314:36,987,058T/C—uncertain significance
rs76088063214:36,987,063C/G—pathogenic
rs132583605414:36,987,066C/G—conflicting classifications of pathogenicity
rs139233961714:36,987,067G/A—pathogenic
rs143879622314:36,987,068C/T—likely benign

Showing 100 of 202 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.