TEAD1

TEA domain transcription factor 1

Summary

This gene encodes a ubiquitous transcriptional enhancer factor that is a member of the TEA/ATTS domain family. This protein directs the transactivation of a wide variety of genes and, in placental cells, also acts as a transcriptional repressor. Mutations in this gene cause Sveinsson's chorioretinal atrophy. Additional transcript variants have been described but their full-length natures have not been experimentally verified. [provided by RefSeq, May 2010]

Known Variants232 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs7926971	11:12,698,040	A/G	regulatory region variant	—
rs12269900	11:12,748,518	G/C	—	—
rs7945718	11:12,748,819	A/G	intron variant	—
rs3890065	11:12,758,767	C/G	regulatory region variant	—
rs745585390	11:12,785,800	C/T	—	likely benign
rs377174338	11:12,785,801	G/C	—	uncertain significance
rs764531349	11:12,785,811	G/A	—	uncertain significance
rs373087911	11:12,785,818	C/T	—	benign
rs2133925777	11:12,785,820	A/G	—	uncertain significance
rs756063329	11:12,785,832	G/A	—	uncertain significance
rs1945159157	11:12,785,847	C/T	—	uncertain significance
rs369254497	11:12,785,855	C/T	—	uncertain significance
rs756716749	11:12,785,856	C/A	—	uncertain significance
rs1425544709	11:12,785,858	A/G	—	uncertain significance
rs745465604	11:12,785,860	T/A	—	likely benign
rs771743451	11:12,785,878	G/C	—	likely benign
rs553921798	11:12,785,890	C/T	—	likely benign
rs777001341	11:12,785,892	A/C	—	uncertain significance
rs1208773012	11:12,785,896	C/T	—	likely benign
rs765176883	11:12,785,908	T/C	—	likely benign
rs2133925844	11:12,785,914	G/A	—	likely benign
rs2494303975	11:12,785,916	C/A	—	uncertain significance
rs763222979	11:12,785,935	A/T	—	likely benign
rs2494304002	11:12,785,936	T/C	—	uncertain significance
rs2494304016	11:12,785,955	T/C	—	uncertain significance
rs372838270	11:12,785,965	C/T	—	benign
rs1440286	11:12,809,152	G/A	intron variant	—
rs35202269	11:12,831,626	C/G	regulatory region variant	—
rs11022512	11:12,835,952	G/A	intron variant	—
rs371148512	11:12,836,324	C/G	—	—
rs34651525	11:12,846,729	A/T	regulatory region variant	—
rs10765993	11:12,849,185	G/T	—	—
rs61878772	11:12,873,769	C/T	—	—
rs7940022	11:12,873,906	G/C	—	—
rs1440277	11:12,875,089	C/T	regulatory region variant	—
rs4757955	11:12,876,492	C/T	—	—
rs546512774	11:12,879,123	C/G	—	—
rs4757957	11:12,881,398	G/T	—	—
rs1250737649	11:12,883,787	T/C	—	likely benign
rs144369913	11:12,883,846	G/A	—	likely benign
rs1947521822	11:12,883,852	C/G	—	likely benign
rs2494559707	11:12,883,855	A/C	—	uncertain significance
rs188094715	11:12,883,870	A/G	—	benign
rs1430785159	11:12,886,371	C/T	—	likely benign
rs1170139888	11:12,886,374	C/T	—	likely benign
rs367668145	11:12,886,379	C/G	—	likely benign
rs1947583726	11:12,886,380	T/G	—	likely benign
rs762887997	11:12,886,381	G/C	—	likely benign
rs2494565775	11:12,886,427	G/T	—	uncertain significance
rs754534289	11:12,886,444	A/G	—	likely benign
rs1014244310	11:12,886,453	C/T	—	uncertain significance
rs11022518	11:12,888,164	G/T	intron variant	—
rs1237324205	11:12,901,257	T/A	—	uncertain significance
rs151205652	11:12,901,275	G/T	—	uncertain significance
rs2494603748	11:12,901,289	T/C	—	uncertain significance
rs866303048	11:12,901,292	C/T	—	uncertain significance
rs746931986	11:12,901,293	G/A	—	likely benign
rs2134094567	11:12,901,295	C/T	—	uncertain significance
rs988376900	11:12,901,306	G/T	—	uncertain significance
rs548044773	11:12,901,314	C/T	—	likely benign
rs780992270	11:12,901,315	G/A	—	uncertain significance
rs745753913	11:12,901,320	G/A	—	likely benign
rs2134094602	11:12,901,323	C/T	—	likely benign
rs368995296	11:12,901,327	G/A	—	uncertain significance
rs760239984	11:12,901,331	T/C	—	uncertain significance
rs2494603855	11:12,901,334	A/G	—	uncertain significance
rs2134094619	11:12,901,337	A/G	—	uncertain significance
rs376738111	11:12,901,347	G/T	—	likely benign
rs1448755837	11:12,901,352	C/G	—	uncertain significance
rs371810508	11:12,901,363	C/T	—	uncertain significance
rs1174214450	11:12,901,364	G/A	—	uncertain significance
rs1358713940	11:12,901,367	C/T	—	uncertain significance
rs750781340	11:12,901,368	G/A	—	likely benign
rs766771230	11:12,901,379	G/A	—	uncertain significance
rs981365366	11:12,901,382	C/T	—	uncertain significance
rs755050202	11:12,901,383	G/A	—	likely benign
rs140390128	11:12,901,385	C/T	—	uncertain significance
rs752862372	11:12,901,386	G/A	—	likely benign
rs199752430	11:12,901,397	A/G	—	likely benign
rs370856457	11:12,901,402	C/T	—	likely benign
rs771951010	11:12,901,406	G/T	—	likely benign
rs756312388	11:12,902,560	G/A	—	likely benign
rs375142186	11:12,902,569	T/G	—	uncertain significance
rs758114482	11:12,902,577	G/T	—	uncertain significance
rs746873807	11:12,902,582	C/G	—	conflicting classifications of pathogenicity
rs1947955713	11:12,902,591	T/C	—	uncertain significance
rs565795088	11:12,902,593	A/C	—	likely benign
rs2494607390	11:12,902,596	A/G	—	likely benign
rs1947955862	11:12,902,607	G/C	—	likely benign
rs2134096465	11:12,902,608	A/G	—	likely benign
rs780796492	11:12,902,612	G/A	—	likely benign
rs539557904	11:12,902,613	G/C	—	likely benign
rs1406458707	11:12,902,617	G/T	—	likely benign
rs781240349	11:12,903,426	C/T	—	likely benign
rs755570239	11:12,903,437	T/C	—	likely benign
rs2304733	11:12,903,443	T/C	—	benign
rs376178332	11:12,903,444	G/A	—	uncertain significance
rs1947979199	11:12,903,455	T/C	—	likely benign
rs151060502	11:12,903,470	C/T	—	likely benign
rs866091452	11:12,903,471	C/T	—	uncertain significance

Showing 100 of 232 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.