BCL11B

BCL11 transcription factor B

Summary

This gene encodes a C2H2-type zinc finger protein and is closely related to BCL11A, a gene whose translocation may be associated with B-cell malignancies. Although the specific function of this gene has not been determined, the encoded protein is known to be a transcriptional repressor, and is regulated by the NURD nucleosome remodeling and histone deacetylase complex. Four alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Aug 2013]

Known Variants537 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs575421828	14:99,640,486	G/A	—	likely benign
rs2503634940	14:99,640,493	T/G	—	uncertain significance
rs1429891978	14:99,640,509	G/C	—	uncertain significance
rs2503635109	14:99,640,511	T/C	—	uncertain significance
rs2139752310	14:99,640,520	C/T	—	uncertain significance
rs764796654	14:99,640,527	C/A	—	likely benign
rs2503635290	14:99,640,532	A/C	—	uncertain significance
rs753198613	14:99,640,533	G/C	—	benign
rs2139752367	14:99,640,536	C/G	—	uncertain significance
rs2139752389	14:99,640,538	C/T	—	uncertain significance
rs758918107	14:99,640,541	C/T	—	conflicting classifications of pathogenicity
rs376796811	14:99,640,548	C/T	—	likely benign
rs201198198	14:99,640,551	T/C	—	benign
rs2139752516	14:99,640,566	C/T	—	likely benign
rs148628497	14:99,640,569	G/C	—	likely benign
rs142708658	14:99,640,602	G/A	—	likely benign
rs1486593673	14:99,640,608	G/A	—	likely benign
rs1255056996	14:99,640,614	C/T	—	likely benign
rs2503635819	14:99,640,618	T/A	—	uncertain significance
rs2503635920	14:99,640,631	G/A	—	uncertain significance
rs2139752811	14:99,640,632	C/G	—	likely benign
rs746847233	14:99,640,635	G/A	—	likely benign
rs2503635965	14:99,640,637	G/C	—	likely pathogenic
rs2503636087	14:99,640,660	T/C	—	likely pathogenic
rs2139752892	14:99,640,666	C/T	—	conflicting classifications of pathogenicity
rs749985774	14:99,640,674	G/A	—	likely benign
rs369478371	14:99,640,695	G/A	—	likely benign
rs1886394733	14:99,640,701	G/T	—	likely pathogenic
rs373169869	14:99,640,713	G/C	—	likely benign
rs1483362967	14:99,640,715	C/T	—	uncertain significance
rs758301675	14:99,640,716	G/A	—	likely benign
rs1048134407	14:99,640,719	G/A	—	likely benign
rs757688497	14:99,640,727	G/A	—	uncertain significance
rs2503636648	14:99,640,730	G/A	—	uncertain significance
rs756365436	14:99,640,737	C/T	—	likely benign
rs2503636729	14:99,640,740	C/G	—	uncertain significance
rs2503636739	14:99,640,742	A/G	—	likely benign
rs888230251	14:99,640,752	G/C	—	pathogenic
rs780100734	14:99,640,770	G/T	—	likely pathogenic
rs2503636855	14:99,640,773	G/A	—	likely benign
rs368320673	14:99,640,779	G/A	—	likely benign
rs755084051	14:99,640,788	G/A	—	likely benign
rs2503636914	14:99,640,790	T/A	—	uncertain significance
rs1299957367	14:99,640,791	G/A	—	likely benign
rs777896969	14:99,640,794	G/A	—	likely benign
rs2503636952	14:99,640,797	G/A	—	likely benign
rs756579330	14:99,640,809	G/A	—	likely benign
rs1205632744	14:99,640,816	C/G	—	uncertain significance
rs770685379	14:99,640,818	C/T	—	likely benign
rs1311997494	14:99,640,821	G/A	—	likely benign
rs1152782	14:99,640,824	G/A	—	likely benign
rs781050663	14:99,640,827	C/G	—	likely benign
rs2139753440	14:99,640,830	G/A	—	likely benign
rs900202261	14:99,640,832	C/G	—	uncertain significance
rs1430747853	14:99,640,835	C/T	—	uncertain significance
rs769515267	14:99,640,845	G/C	—	likely benign
rs1294692211	14:99,640,854	T/C	—	likely benign
rs1160277604	14:99,640,856	C/T	—	uncertain significance
rs774985948	14:99,640,857	G/A	—	likely benign
rs768153330	14:99,640,866	G/A	—	likely benign
rs1209514650	14:99,640,874	G/A	—	uncertain significance
rs1247218127	14:99,640,880	A/G	—	uncertain significance
rs1389684919	14:99,640,887	G/A	—	likely benign
rs1022551537	14:99,640,890	G/A	—	likely benign
rs1412064788	14:99,640,898	G/C	—	uncertain significance
rs74649889	14:99,640,905	A/G	—	benign
rs1397348808	14:99,640,908	C/T	—	likely benign
rs1433585634	14:99,640,909	G/A	—	uncertain significance
rs750831905	14:99,640,911	C/T	—	likely benign
rs978304353	14:99,640,914	G/A	—	likely benign
rs2503638100	14:99,640,928	T/C	—	uncertain significance
rs2139753920	14:99,640,931	C/T	—	uncertain significance
rs2503638152	14:99,640,934	T/G	—	uncertain significance
rs564784631	14:99,640,938	G/T	—	likely benign
rs766671532	14:99,640,941	C/A	—	likely benign
rs1206789646	14:99,640,942	G/A	—	uncertain significance
rs1247485959	14:99,640,947	C/G	—	uncertain significance
rs1195527761	14:99,640,950	G/A	—	likely benign
rs2139754017	14:99,640,951	G/A	—	uncertain significance
rs2139754039	14:99,640,956	C/T	—	likely benign
rs1182778900	14:99,640,962	G/A	—	likely benign
rs375433500	14:99,640,977	T/A	—	likely benign
rs745727457	14:99,640,980	G/A	—	likely benign
rs2139754207	14:99,640,998	G/A	—	likely benign
rs748930743	14:99,641,016	C/G	—	likely benign
rs761140637	14:99,641,026	G/C	—	uncertain significance
rs371673923	14:99,641,028	G/A	—	likely benign
rs200197315	14:99,641,035	A/G	—	uncertain significance
rs765485153	14:99,641,037	C/G	—	likely benign
rs375263416	14:99,641,046	C/G	—	likely benign
rs1886413274	14:99,641,054	C/A	—	uncertain significance
rs139779656	14:99,641,055	G/A	—	likely benign
rs779842515	14:99,641,061	G/C	—	likely benign
rs2503639038	14:99,641,063	A/G	—	uncertain significance
rs1407775325	14:99,641,065	G/T	—	conflicting classifications of pathogenicity
rs1886414783	14:99,641,073	C/T	—	likely benign
rs115625258	14:99,641,074	G/A	—	benign
rs1282744171	14:99,641,076	G/A	—	likely benign
rs747457528	14:99,641,077	G/C	—	benign
rs1204919860	14:99,641,078	C/T	—	benign

Showing 100 of 537 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.