THRB

thyroid hormone receptor beta

Summary

The protein encoded by this gene is a nuclear hormone receptor for triiodothyronine. It is one of the several receptors for thyroid hormone, and has been shown to mediate the biological activities of thyroid hormone. Knockout studies in mice suggest that the different receptors, while having certain extent of redundancy, may mediate different functions of thyroid hormone. Mutations in this gene are known to be a cause of generalized thyroid hormone resistance (GTHR), a syndrome characterized by goiter and high levels of circulating thyroid hormone (T3-T4), with normal or slightly elevated thyroid stimulating hormone (TSH). Several alternatively spliced transcript variants encoding the same protein have been observed for this gene. [provided by RefSeq, Jul 2008]

Known Variants295 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs17014136	3:24,158,647	C/T	—	benign
rs529651896	3:24,158,674	T/A	—	benign
rs75272640	3:24,158,691	C/T	—	benign
rs1030565111	3:24,158,804	C/G	—	uncertain significance
rs548437052	3:24,158,842	C/T	—	benign
rs886058266	3:24,158,944	A/T	—	uncertain significance
rs141920435	3:24,158,946	G/C	—	benign
rs947963207	3:24,158,989	C/G	—	uncertain significance
rs2167116	3:24,159,008	G/A	—	benign
rs56204436	3:24,159,023	G/A	—	benign
rs752819506	3:24,159,080	G/A	—	uncertain significance
rs550799208	3:24,159,113	G/A	—	benign
rs577817279	3:24,159,118	G/T	—	uncertain significance
rs1016520908	3:24,159,128	A/T	—	uncertain significance
rs545003746	3:24,159,181	T/C	—	uncertain significance
rs376751863	3:24,159,209	C/G	—	uncertain significance
rs886058267	3:24,159,253	T/G	—	uncertain significance
rs981440598	3:24,159,379	A/G	—	uncertain significance
rs1349265	3:24,159,387	G/A	—	benign
rs146338850	3:24,159,400	C/G	—	benign
rs371837190	3:24,159,448	C/T	—	uncertain significance
rs886058268	3:24,159,455	T/C	—	uncertain significance
rs539558452	3:24,159,458	C/T	—	benign
rs534066448	3:24,159,551	G/A	—	benign
rs139568686	3:24,159,579	A/G	—	benign
rs1037848055	3:24,159,605	C/T	—	uncertain significance
rs567375785	3:24,159,613	C/T	—	benign
rs577889185	3:24,159,661	A/G	—	likely benign
rs1575210052	3:24,159,831	A/G	—	uncertain significance
rs886058272	3:24,159,905	A/G	—	uncertain significance
rs1324834995	3:24,159,941	A/T	—	uncertain significance
rs78543378	3:24,160,035	C/T	—	benign
rs376819021	3:24,160,170	T/C	—	benign
rs575525867	3:24,160,186	C/G	—	benign
rs142926795	3:24,160,246	G/C	—	benign
rs575539914	3:24,160,320	G/A	—	uncertain significance
rs151088155	3:24,160,342	C/G	—	uncertain significance
rs751368376	3:24,160,394	G/A	—	uncertain significance
rs549973481	3:24,160,446	C/T	—	benign
rs886058274	3:24,160,464	G/T	—	uncertain significance
rs571340397	3:24,160,562	C/T	—	uncertain significance
rs572325175	3:24,160,780	C/G	—	benign
rs886058280	3:24,160,803	G/A	—	uncertain significance
rs554571353	3:24,160,916	G/A	—	benign
rs149846483	3:24,161,018	G/C	—	benign
rs144912030	3:24,161,083	C/T	—	benign
rs886058281	3:24,161,087	G/A	—	uncertain significance
rs1208012177	3:24,161,156	C/T	—	uncertain significance
rs560923192	3:24,161,212	T/C	—	benign
rs1035090874	3:24,161,220	C/T	—	uncertain significance
rs192001851	3:24,161,232	A/G	—	benign
rs544177543	3:24,161,320	C/T	—	uncertain significance
rs200103337	3:24,161,328	T/C	—	uncertain significance
rs772300437	3:24,161,355	C/A	—	uncertain significance
rs144174027	3:24,161,358	G/A	—	benign
rs536523113	3:24,161,399	C/T	—	benign
rs116321631	3:24,161,463	T/C	—	benign
rs1320799694	3:24,161,468	C/T	—	uncertain significance
rs79270057	3:24,161,493	C/T	—	benign
rs762935121	3:24,161,519	G/A	—	uncertain significance
rs143575270	3:24,161,589	C/A	—	benign
rs184507648	3:24,161,738	C/T	—	uncertain significance
rs2031435949	3:24,161,743	G/A	—	uncertain significance
rs150170704	3:24,161,759	A/C	—	benign
rs530873073	3:24,161,841	C/T	—	benign
rs375476690	3:24,161,859	T/C	—	benign
rs975462034	3:24,161,930	T/C	—	uncertain significance
rs558492958	3:24,162,028	G/C	—	benign
rs570471899	3:24,162,029	A/G	—	benign
rs886058282	3:24,162,034	G/A	—	uncertain significance
rs779322220	3:24,162,043	C/T	—	uncertain significance
rs113984059	3:24,162,059	T/C	—	benign
rs886058283	3:24,162,171	G/C	—	uncertain significance
rs554969796	3:24,162,192	G/A	—	uncertain significance
rs886058284	3:24,162,193	A/G	—	uncertain significance
rs76054208	3:24,162,231	C/G	—	benign
rs958617165	3:24,162,263	A/G	—	uncertain significance
rs138358071	3:24,162,270	A/C	—	benign
rs2031549617	3:24,162,344	T/C	—	uncertain significance
rs886058285	3:24,162,345	A/G	—	uncertain significance
rs1440318270	3:24,162,415	C/T	—	uncertain significance
rs149588565	3:24,162,416	G/A	—	benign
rs201231150	3:24,162,417	C/T	—	uncertain significance
rs886058286	3:24,162,470	T/C	—	uncertain significance
rs886058287	3:24,162,509	A/G	—	uncertain significance
rs529916834	3:24,162,514	T/C	—	likely benign
rs181974876	3:24,162,573	C/T	—	uncertain significance
rs187291821	3:24,162,713	A/G	—	benign
rs2031628717	3:24,162,717	A/G	—	uncertain significance
rs1455770141	3:24,162,793	C/T	—	uncertain significance
rs1473952500	3:24,162,808	G/C	—	uncertain significance
rs367583791	3:24,162,814	A/C	—	benign
rs772529172	3:24,162,880	C/T	—	uncertain significance
rs985382537	3:24,162,932	A/G	—	uncertain significance
rs148766881	3:24,162,966	A/G	—	benign
rs142386334	3:24,163,000	G/A	—	benign
rs147542176	3:24,163,003	G/T	—	likely benign
rs844107	3:24,163,021	T/C	—	benign
rs192044256	3:24,163,041	G/A	—	benign
rs181584465	3:24,163,073	T/C	—	uncertain significance

Showing 100 of 295 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.