TG

thyroglobulin

Summary

Thyroglobulin (Tg) is a glycoprotein homodimer produced predominantly by the thryroid gland. It acts as a substrate for the synthesis of thyroxine and triiodothyronine as well as the storage of the inactive forms of thyroid hormone and iodine. Thyroglobulin is secreted from the endoplasmic reticulum to its site of iodination, and subsequent thyroxine biosynthesis, in the follicular lumen. Mutations in this gene cause thyroid dyshormonogenesis, manifested as goiter, and are associated with moderate to severe congenital hypothyroidism. Polymorphisms in this gene are associated with susceptibility to autoimmune thyroid diseases (AITD) such as Graves disease and Hashimoto thryoiditis. [provided by RefSeq, Nov 2009]

Known Variants1,608 total

rsidPosition (GRCh37)AllelesClassClinVar
rs1801958:133,877,623A/G—risk factor
rs13547153588:133,879,191G/A—uncertain significance
rs21320137848:133,879,248G/T—uncertain significance
rs14202010798:133,879,251C/T—likely benign
rs10541377068:133,879,254G/C—likely benign
rs14376848738:133,879,257C/A—likely benign
rs13324587088:133,879,271C/T—uncertain significance
rs24893984268:133,879,275G/A—likely benign
rs7808468928:133,879,293G/A—pathogenic
rs1451634198:133,879,299G/A—likely benign
rs1400303128:133,879,305T/C—likely benign
rs1436476198:133,879,311C/T—uncertain significance
rs24893992928:133,879,319T/C—likely benign
rs7743260428:133,879,322G/T—likely benign
rs24893994358:133,879,325G/A—likely benign
rs1905730118:133,879,329T/C—likely benign
rs1802028:133,880,212G/A—benign
rs1802038:133,880,334T/C—benign
rs9163815178:133,880,354T/C—likely benign
rs14742329488:133,880,356C/A—likely benign
rs7557777448:133,880,365C/T—pathogenic
rs18391419958:133,880,370G/C—likely benign
rs1145430858:133,880,375C/T—uncertain significance
rs15546488608:133,880,377C/T—pathogenic
rs7790139058:133,880,382C/T—likely benign
rs3713151848:133,880,386C/T—uncertain significance
rs3745590008:133,880,397G/A—conflicting classifications of pathogenicity
rs12778809118:133,880,400G/T—likely benign
rs7766798938:133,880,408A/G—uncertain significance
rs1406326778:133,880,409A/G—likely benign
rs5395741018:133,880,411C/A—uncertain significance
rs3686592128:133,880,412G/A—likely benign
rs7645008078:133,880,424G/A—likely benign
rs7519302328:133,880,430A/G—conflicting classifications of pathogenicity
rs1144365008:133,880,436C/T—conflicting classifications of pathogenicity
rs3712714038:133,880,437G/A—uncertain significance
rs7533806748:133,880,439G/C—likely benign
rs5688995028:133,880,442C/G—likely benign
rs18391485918:133,880,443C/T—pathogenic
rs13038715838:133,880,452G/C—uncertain significance
rs7784949748:133,880,463C/T—likely benign
rs7468555698:133,880,477T/C—likely benign
rs13314145008:133,880,480G/A—likely benign
rs7705850228:133,880,488C/T—likely benign
rs24894572898:133,881,955G/A—likely benign
rs3762325498:133,881,961G/A—likely benign
rs13034626278:133,881,963C/T—likely benign
rs18393005408:133,881,981C/A—uncertain significance
rs3702060888:133,881,992C/T—likely benign
rs1410827838:133,881,995C/T—conflicting classifications of pathogenicity
rs1163406338:133,881,996A/G—conflicting classifications of pathogenicity
rs7808457788:133,882,014G/A—uncertain significance
rs7801468048:133,882,022C/A—likely benign
rs2014141838:133,882,025C/T—likely benign
rs1426988378:133,882,026G/Amissense variantpathogenic
rs24894605088:133,882,043C/T—likely benign
rs7621572428:133,882,049G/A—likely benign
rs11815111058:133,882,050C/T—pathogenic
rs7650168418:133,882,060G/A—uncertain significance
rs7634477368:133,882,072G/A—pathogenic
rs13983731618:133,882,073T/G—pathogenic
rs12834047158:133,882,084G/A—likely benign
rs7571296128:133,882,085G/C—likely benign
rs7810914318:133,882,086G/C—likely benign
rs10443139168:133,882,087G/A—likely benign
rs2014096448:133,882,088G/A—benign
rs7494526948:133,882,090C/T—likely benign
rs5421607138:133,882,091G/A—likely benign
rs1802078:133,883,215A/Gintron variant—
rs3707913288:133,883,576G/A—likely benign
rs11662655588:133,883,577C/T—likely benign
rs24894937338:133,883,578T/C—likely benign
rs13421819858:133,883,579C/G—likely benign
rs12181288028:133,883,580C/G—likely benign
rs3735000128:133,883,584T/C—likely benign
rs15871668638:133,883,590C/G—pathogenic
rs13132761498:133,883,593G/T—uncertain significance
rs24894947068:133,883,597G/C—likely benign
rs7503092158:133,883,600A/G—likely benign
rs24894949918:133,883,606T/C—likely benign
rs11945837718:133,883,613C/T—pathogenic
rs18394657808:133,883,618A/G—likely benign
rs5317728828:133,883,619C/T—pathogenic
rs7482118298:133,883,642C/T—likely benign
rs353014338:133,883,643A/Gmissense variantuncertain significance
rs24894964118:133,883,657C/T—likely benign
rs18394690008:133,883,663C/A—likely benign
rs18394693118:133,883,670C/A—uncertain significance
rs1143228478:133,883,671C/T—conflicting classifications of pathogenicity
rs9380768558:133,883,672T/C—likely benign
rs18394701928:133,883,673C/T—pathogenic
rs13056692418:133,883,684T/C—likely benign
rs7681629268:133,883,690G/A—likely benign
rs7740134918:133,883,696C/T—likely benign
rs7612516038:133,883,697G/A—uncertain significance
rs2002179908:133,883,698C/T—likely benign
rs7731373808:133,883,699G/A—likely benign
rs1156779328:133,883,703G/A—uncertain significance
rs1486692598:133,883,714T/C—likely benign
rs24894984018:133,883,717G/A—likely benign

Showing 100 of 1,608 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.