TSHR

thyroid stimulating hormone receptor

Summary

The protein encoded by this gene is a membrane protein and a major controller of thyroid cell metabolism. The encoded protein is a receptor for thyrothropin and thyrostimulin, and its activity is mediated by adenylate cyclase. Defects in this gene are a cause of several types of hyperthyroidism. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2008]

Known Variants454 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs1180169266	14:81,421,859	C/T	—	uncertain significance
rs1886616129	14:81,421,923	C/T	—	uncertain significance
rs201252762	14:81,421,965	G/A	—	conflicting classifications of pathogenicity
rs370437427	14:81,422,019	T/A	—	likely benign
rs1886625440	14:81,422,046	C/T	—	pathogenic
rs147305381	14:81,422,075	G/A	—	likely benign
rs1299194076	14:81,422,079	C/T	—	likely benign
rs2139669504	14:81,422,084	C/T	—	likely benign
rs1594884038	14:81,422,087	A/G	—	likely benign
rs777166186	14:81,422,111	C/A	—	pathogenic
rs1198068309	14:81,422,114	G/A	—	likely benign
rs745922510	14:81,422,117	C/T	—	likely benign
rs45499704	14:81,422,124	G/A	—	conflicting classifications of pathogenicity
rs61747482	14:81,422,130	G/C	missense variant	likely benign
rs1886637902	14:81,422,144	C/A	—	likely benign
rs121908869	14:81,422,146	G/C	missense variant	pathogenic
rs2503157070	14:81,422,158	A/G	—	uncertain significance
rs1886640516	14:81,422,168	C/T	—	likely benign
rs147137913	14:81,422,169	A/G	—	conflicting classifications of pathogenicity
rs2503157209	14:81,422,172	T/C	—	likely benign
rs777358636	14:81,422,177	G/T	—	likely benign
rs2234919	14:81,422,178	A/C	—	benign
rs886050853	14:81,422,181	A/C	—	uncertain significance
rs781625203	14:81,422,191	C/T	—	uncertain significance
rs200401152	14:81,422,194	T/C	—	uncertain significance
rs1423778925	14:81,422,195	G/C	—	likely pathogenic
rs139670361	14:81,422,204	C/T	—	likely benign
rs768916638	14:81,422,205	G/A	—	likely benign
rs2139670378	14:81,422,209	G/T	—	likely benign
rs760523828	14:81,422,210	A/C	—	likely benign
rs375609968	14:81,422,214	C/G	—	likely benign
rs2239610	14:81,422,257	G/C	intron variant	benign
rs726020	14:81,425,425	C/A	—	—
rs179247	14:81,432,546	A/G	intron variant	—
rs7160338	14:81,442,842	C/T	intron variant	—
rs2215981	14:81,444,967	G/T	—	—
rs12590262	14:81,448,782	T/A	coding sequence variant	—
rs12101255	14:81,451,052	C/T	downstream gene variant	—
rs12101261	14:81,451,229	C/T	downstream gene variant	—
rs17111346	14:81,452,172	G/A	downstream gene variant	—
rs2371463	14:81,457,788	G/T	—	—
rs533640937	14:81,457,933	C/T	—	likely benign
rs2300519	14:81,458,762	T/A	—	—
rs2160215	14:81,461,472	T/C	intron variant	—
rs4903961	14:81,462,649	C/G	regulatory region variant	—
rs2268458	14:81,462,895	T/C	regulatory region variant	—
rs78309140	14:81,500,630	C/A	downstream gene variant	—
rs116622332	14:81,506,821	T/C	intron variant	—
rs17111394	14:81,523,128	T/G	—	—
rs191358938	14:81,523,258	C/A	intron variant	—
rs17111401	14:81,528,412	T/A	—	benign
rs768667564	14:81,528,472	T/A	—	likely benign
rs1449544843	14:81,528,479	G/A	—	likely benign
rs145265345	14:81,528,481	T/C	—	conflicting classifications of pathogenicity
rs562655405	14:81,528,495	G/A	—	likely benign
rs1886290711	14:81,528,504	G/A	—	likely benign
rs372154814	14:81,528,510	C/T	—	likely benign
rs1886292055	14:81,528,511	C/T	—	uncertain significance
rs776556098	14:81,528,513	G/A	—	likely benign
rs1886292569	14:81,528,518	C/A	—	uncertain significance
rs759473029	14:81,528,522	T/C	—	likely benign
rs142063461	14:81,528,523	C/T	—	conflicting classifications of pathogenicity
rs762480906	14:81,528,531	T/C	—	likely benign
rs763539758	14:81,528,540	T/G	—	likely benign
rs1886294714	14:81,528,546	G/T	—	likely benign
rs767212435	14:81,528,569	T/G	—	uncertain significance
rs1161527069	14:81,528,578	T/C	—	likely benign
rs2503474440	14:81,528,579	A/G	—	likely benign
rs11159490	14:81,534,440	T/C	—	benign
rs200913778	14:81,534,578	T/C	—	likely benign
rs772420651	14:81,534,580	T/C	—	likely benign
rs2503497782	14:81,534,583	T/A	—	likely benign
rs2503497795	14:81,534,586	T/C	—	likely benign
rs1195032697	14:81,534,594	T/C	—	likely benign
rs1250056566	14:81,534,601	C/T	—	likely benign
rs769501905	14:81,534,613	T/C	—	likely benign
rs1279135603	14:81,534,618	C/T	—	uncertain significance
rs528335685	14:81,534,619	T/C	—	likely benign
rs2139909895	14:81,534,623	C/T	—	pathogenic
rs538572108	14:81,534,631	G/A	—	likely benign
rs2139910065	14:81,534,637	A/G	—	likely benign
rs761050933	14:81,534,640	C/T	—	likely benign
rs2503498523	14:81,534,644	T/G	—	likely pathogenic
rs1384603967	14:81,534,645	T/C	—	uncertain significance
rs922054451	14:81,534,653	T/C	—	likely benign
rs1396465595	14:81,534,658	T/C	—	likely benign
rs1340282004	14:81,534,670	C/T	—	likely benign
rs1192908274	14:81,534,692	C/A	—	likely benign
rs778773035	14:81,554,293	T/C	—	likely benign
rs1888412524	14:81,554,297	G/A	—	likely pathogenic
rs121908865	14:81,554,306	G/A	missense variant	pathogenic
rs1482487636	14:81,554,312	C/T	—	benign
rs373413559	14:81,554,334	C/T	—	likely benign
rs144084915	14:81,554,337	T/A	—	conflicting classifications of pathogenicity
rs770316441	14:81,554,340	T/C	—	likely benign
rs146496347	14:81,554,352	G/T	—	uncertain significance
rs1888420636	14:81,554,386	C/A	—	likely benign
rs2075173	14:81,554,617	A/G	intron variant	benign
rs10147011	14:81,557,279	G/T	—	benign
rs774973166	14:81,557,394	C/G	—	likely benign

Showing 100 of 454 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.