TTR

transthyretin

Summary

This gene encodes one of the three prealbumins, which include alpha-1-antitrypsin, transthyretin and orosomucoid. The encoded protein, transthyretin, is a homo-tetrameric carrier protein, which transports thyroid hormones in the plasma and cerebrospinal fluid. It is also involved in the transport of retinol (vitamin A) in the plasma by associating with retinol-binding protein. The protein may also be involved in other intracellular processes including proteolysis, nerve regeneration, autophagy and glucose homeostasis. Mutations in this gene are associated with amyloid deposition, predominantly affecting peripheral nerves or the heart, while a small percentage of the gene mutations are non-amyloidogenic. The mutations are implicated in the etiology of several diseases, including amyloidotic polyneuropathy, euthyroid hyperthyroxinaemia, amyloidotic vitreous opacities, cardiomyopathy, oculoleptomeningeal amyloidosis, meningocerebrovascular amyloidosis and carpal tunnel syndrome. [provided by RefSeq, Aug 2017]

Known Variants285 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs3794885	18:29,171,123	A/T	—	likely benign
rs967658213	18:29,171,764	G/T	—	conflicting classifications of pathogenicity
rs770403822	18:29,171,805	G/A	—	uncertain significance
rs750577317	18:29,171,820	C/T	—	likely benign
rs746692906	18:29,171,851	C/T	—	conflicting classifications of pathogenicity
rs745422404	18:29,171,863	A/G	—	conflicting classifications of pathogenicity
rs769343676	18:29,171,865	G/C	—	conflicting classifications of pathogenicity
rs2510931978	18:29,171,871	T/G	—	likely benign
rs1598843600	18:29,171,874	T/C	—	likely benign
rs1157253322	18:29,171,876	A/T	—	uncertain significance
rs2144405297	18:29,171,877	T/A	—	uncertain significance
rs144792001	18:29,171,878	C/G	—	uncertain significance
rs138657343	18:29,171,879	G/A	—	conflicting classifications of pathogenicity
rs76992529	18:29,171,881	G/A	missense variant	pathogenic
rs2144405313	18:29,171,886	C/T	—	likely benign
rs991342939	18:29,171,889	C/T	—	likely benign
rs762243340	18:29,171,890	C/T	—	uncertain significance
rs1567945391	18:29,171,899	G/T	—	uncertain significance
rs2073488167	18:29,171,900	C/A	—	uncertain significance
rs767889884	18:29,171,902	G/A	—	uncertain significance
rs1347695561	18:29,171,905	C/T	—	likely benign
rs2510932004	18:29,171,910	A/G	—	likely benign
rs1598843637	18:29,171,912	T/A	—	uncertain significance
rs1237121765	18:29,171,915	T/C	—	uncertain significance
rs730881172	18:29,171,917	T/G	—	uncertain significance
rs1349724236	18:29,171,919	T/C	—	likely benign
rs756202543	18:29,171,922	G/A	—	likely benign
rs1469623969	18:29,171,927	G/C	—	uncertain significance
rs1215630426	18:29,171,930	C/T	—	uncertain significance
rs2144405395	18:29,171,931	T/C	—	likely benign
rs377052919	18:29,171,933	C/T	—	uncertain significance
rs752579437	18:29,171,934	G/C	—	conflicting classifications of pathogenicity
rs1598843674	18:29,171,935	G/A	—	uncertain significance
rs2144405413	18:29,171,936	T/C	—	uncertain significance
rs1221178462	18:29,171,939	G/C	—	uncertain significance
rs758315427	18:29,171,940	T/C	—	uncertain significance
rs1453023289	18:29,171,941	G/A	—	likely benign
rs1179187406	18:29,171,944	T/C	—	likely benign
rs368643414	18:29,171,946	T/C	—	likely benign
rs2073488528	18:29,171,947	G/C	—	likely benign
rs377167174	18:29,171,964	C/T	—	likely benign
rs723744	18:29,172,476	G/T	intron variant	—
rs773578107	18:29,172,839	C/T	—	likely benign
rs548935944	18:29,172,840	G/A	—	likely benign
rs759512847	18:29,172,843	T/C	—	conflicting classifications of pathogenicity
rs764059061	18:29,172,850	T/C	—	likely benign
rs587780990	18:29,172,852	C/T	—	likely benign
rs757103675	18:29,172,854	C/T	—	likely benign
rs780910338	18:29,172,855	C/T	—	likely benign
rs2510932325	18:29,172,858	G/A	—	uncertain significance
rs1449262220	18:29,172,860	G/A	—	uncertain significance
rs2073492897	18:29,172,863	C/T	—	uncertain significance
rs750051388	18:29,172,864	C/T	—	likely benign
rs1800458	18:29,172,865	G/A	missense variant	likely benign
rs779457244	18:29,172,867	T/C	—	likely benign
rs1313375879	18:29,172,872	C/T	—	uncertain significance
rs1323375123	18:29,172,874	A/G	—	uncertain significance
rs121918083	18:29,172,877	T/C	missense variant	pathogenic
rs2144406508	18:29,172,878	G/A	—	likely pathogenic
rs2144406521	18:29,172,880	C/T	—	uncertain significance
rs2144406525	18:29,172,883	C/G	—	pathogenic
rs121918094	18:29,172,884	T/C	missense variant	pathogenic
rs768273993	18:29,172,887	T/A	—	uncertain significance
rs1598844071	18:29,172,897	T/A	—	likely benign
rs2510932354	18:29,172,899	T/C	—	uncertain significance
rs1567945632	18:29,172,901	G/A	—	pathogenic
rs121918098	18:29,172,902	A/G	missense variant	pathogenic
rs779619795	18:29,172,903	T/A	—	pathogenic
rs11541795	18:29,172,905	C/A	—	pathogenic
rs2510932359	18:29,172,906	T/A	—	likely benign
rs121918093	18:29,172,907	G/A	missense variant	pathogenic
rs1258875883	18:29,172,908	T/C	—	likely pathogenic
rs2510932365	18:29,172,909	C/T	—	likely benign
rs1004021945	18:29,172,910	C/T	—	uncertain significance
rs879254269	18:29,172,911	G/A	—	uncertain significance
rs2144406621	18:29,172,913	G/A	—	uncertain significance
rs11541800	18:29,172,916	A/C	—	uncertain significance
rs1598844112	18:29,172,917	G/A	—	pathogenic
rs11541790	18:29,172,919	C/T	missense variant	pathogenic
rs1415606768	18:29,172,920	C/T	—	likely pathogenic
rs104894664	18:29,172,922	G/A	missense variant	pathogenic
rs773584864	18:29,172,925	A/G	—	conflicting classifications of pathogenicity
rs1598844137	18:29,172,926	T/C	—	uncertain significance
rs145551875	18:29,172,929	A/G	—	conflicting classifications of pathogenicity
rs1252826226	18:29,172,930	T/C	—	likely benign
rs11081703	18:29,172,936	C/T	—	likely benign
rs28933979	18:29,172,937	G/C	missense variant	pathogenic
rs79977247	18:29,172,938	T/C	missense variant	pathogenic
rs915983905	18:29,172,940	C/T	—	uncertain significance
rs2073493951	18:29,172,944	T/C	—	pathogenic
rs2144406775	18:29,172,945	G/A	—	likely benign
rs121918068	18:29,172,946	T/C	missense variant	pathogenic
rs1598844184	18:29,172,949	A/G	—	pathogenic
rs1598844187	18:29,172,950	G/C	—	pathogenic
rs2510932394	18:29,172,951	A/C	—	conflicting classifications of pathogenicity
rs2510932395	18:29,172,952	A/G	—	conflicting classifications of pathogenicity
rs1567945684	18:29,172,954	G/T	—	pathogenic
rs121918077	18:29,172,955	G/C	missense variant	pathogenic
rs2073494094	18:29,172,956	C/A	—	pathogenic
rs1380447419	18:29,172,958	G/A	—	uncertain significance

Showing 100 of 285 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.