GTF2IRD1

GTF2I repeat domain containing 1

Summary

The protein encoded by this gene contains five GTF2I-like repeats and each repeat possesses a potential helix-loop-helix (HLH) motif. It may have the ability to interact with other HLH-proteins and function as a transcription factor or as a positive transcriptional regulator under the control of Retinoblastoma protein. This gene plays a role in craniofacial and cognitive development and mutations have been associated with Williams-Beuren syndrome, a multisystem developmental disorder caused by deletion of multiple genes at 7q11.23. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2010]

Known Variants123 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs1554337191	7:73,907,580	T/C	—	—
rs530634980	7:73,910,241	C/T	—	—
rs144243800	7:73,922,437	C/T	—	likely benign
rs782139309	7:73,922,442	C/T	—	uncertain significance
rs151198189	7:73,922,449	C/T	—	likely benign
rs149970309	7:73,922,479	G/A	—	likely benign
rs536231679	7:73,922,487	G/A	—	uncertain significance
rs60668206	7:73,925,943	C/T	intron variant	—
rs781866989	7:73,927,167	C/T	—	uncertain significance
rs565790840	7:73,927,183	C/T	—	likely benign
rs1554343415	7:73,927,219	C/A	—	uncertain significance
rs782360413	7:73,927,220	G/A	—	uncertain significance
rs781926381	7:73,927,229	G/T	—	uncertain significance
rs782146861	7:73,929,692	A/G	—	uncertain significance
rs782585415	7:73,929,720	G/A	—	conflicting classifications of pathogenicity
rs782673228	7:73,929,732	G/C	—	uncertain significance
rs138159923	7:73,929,751	G/A	—	likely benign
rs147763522	7:73,929,839	C/T	—	likely benign
rs370252920	7:73,929,840	G/A	—	uncertain significance
rs141229377	7:73,929,852	G/A	—	uncertain significance
rs2107745	7:73,931,457	A/T	—	—
rs112098981	7:73,932,488	C/G	—	likely benign
rs145535993	7:73,932,494	G/T	—	benign
rs141229529	7:73,932,497	G/A	—	benign
rs138935107	7:73,932,521	C/T	—	likely benign
rs782212936	7:73,932,557	C/T	—	likely benign
rs17851629	7:73,932,560	A/G	—	benign
rs2488682405	7:73,932,603	C/T	—	uncertain significance
rs782564236	7:73,932,631	G/A	—	uncertain significance
rs148084588	7:73,933,758	C/T	—	likely benign
rs782730285	7:73,933,766	G/A	—	likely benign
rs2488690196	7:73,933,779	G/T	—	uncertain significance
rs144286165	7:73,933,787	C/T	—	likely benign
rs148463467	7:73,933,793	C/T	—	likely benign
rs782438519	7:73,933,809	G/A	—	uncertain significance
rs200483189	7:73,933,816	G/A	—	uncertain significance
rs781938937	7:73,933,846	A/T	—	uncertain significance
rs782124050	7:73,933,865	G/T	—	likely benign
rs200536132	7:73,933,874	C/T	—	benign
rs140630041	7:73,933,891	T/C	—	likely benign
rs910139363	7:73,933,916	G/A	—	likely benign
rs782207760	7:73,933,924	A/G	—	uncertain significance
rs2488692075	7:73,933,972	C/T	—	likely benign
rs376496441	7:73,933,979	C/T	—	likely benign
rs1056806017	7:73,933,993	G/C	—	uncertain significance
rs2488692548	7:73,934,019	A/G	—	uncertain significance
rs141864859	7:73,934,021	C/T	—	benign
rs587757707	7:73,934,039	C/T	—	likely benign
rs202009652	7:73,935,572	C/A	—	likely benign
rs201950263	7:73,935,578	C/G	—	uncertain significance
rs587705657	7:73,935,579	G/T	—	uncertain significance
rs139524001	7:73,935,587	C/T	—	benign
rs863223350	7:73,935,594	C/T	missense variant	pathogenic
rs374283661	7:73,935,599	T/C	—	likely benign
rs782111064	7:73,938,429	C/T	—	likely benign
rs782799091	7:73,938,430	G/T	—	uncertain significance
rs782165650	7:73,938,435	C/T	—	likely benign
rs73135369	7:73,940,978	T/G	—	—
rs1797848846	7:73,944,087	A/G	—	uncertain significance
rs61744518	7:73,944,095	C/T	—	benign
rs145889871	7:73,944,167	C/T	—	likely benign
rs2240357	7:73,944,185	T/C	—	benign
rs782636289	7:73,949,456	C/T	—	uncertain significance
rs201795705	7:73,949,477	G/C	—	likely benign
rs1798285336	7:73,950,503	A/G	—	uncertain significance
rs377651134	7:73,950,521	C/T	—	uncertain significance
rs782737917	7:73,950,526	C/G	—	uncertain significance
rs138821622	7:73,950,601	G/A	—	uncertain significance
rs781852918	7:73,950,604	C/T	—	uncertain significance
rs587613656	7:73,952,475	G/A	—	likely benign
rs55634982	7:73,953,017	C/T	—	benign
rs367568831	7:73,953,100	G/A	—	likely benign
rs782722515	7:73,954,215	C/T	—	uncertain significance
rs188074509	7:73,954,261	A/G	—	likely benign
rs200735852	7:73,954,268	G/A	—	uncertain significance
rs1583833638	7:73,954,294	G/A	—	likely benign
rs782426480	7:73,959,096	A/C	—	uncertain significance
rs147430261	7:73,959,106	C/T	—	likely benign
rs781976290	7:73,959,109	G/A	—	uncertain significance
rs201240311	7:73,959,114	G/A	—	uncertain significance
rs142502062	7:73,959,125	C/T	—	benign
rs377546526	7:73,959,126	G/A	—	uncertain significance
rs377293896	7:73,960,095	G/A	—	uncertain significance
rs150921901	7:73,960,096	G/T	—	likely benign
rs2488885416	7:73,960,131	C/T	—	uncertain significance
rs371997506	7:73,961,458	C/T	—	likely benign
rs781982716	7:73,961,554	C/T	—	likely benign
rs781919005	7:73,961,571	G/A	—	uncertain significance
rs782719821	7:73,969,507	C/T	—	likely benign
rs2301895	7:73,969,541	A/G	—	benign
rs200381677	7:73,969,562	C/T	—	benign
rs149061117	7:73,969,563	G/A	—	benign
rs145914970	7:73,969,796	C/T	—	benign
rs145912521	7:73,969,797	G/A	—	uncertain significance
rs2488956185	7:73,969,801	G/T	—	uncertain significance
rs149209759	7:73,971,995	A/G	—	likely benign
rs782119956	7:73,972,004	G/T	—	uncertain significance
rs758790855	7:73,972,051	C/T	—	likely benign
rs368508211	7:73,972,061	T/C	—	likely benign
rs138187308	7:73,972,251	A/G	intron variant	—

Showing 100 of 123 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.