BCL11A

BCL11 transcription factor A

Summary

This gene encodes a C2H2 type zinc-finger protein by its similarity to the mouse Bcl11a/Evi9 protein. The corresponding mouse gene is a common site of retroviral integration in myeloid leukemia, and may function as a leukemia disease gene, in part, through its interaction with BCL6. During hematopoietic cell differentiation, this gene is down-regulated. It is possibly involved in lymphoma pathogenesis since translocations associated with B-cell malignancies also deregulates its expression. Multiple transcript variants encoding several different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

Known Variants166 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs768802721	2:60,679,728	C/G	—	uncertain significance
rs1265922527	2:60,679,729	G/C	—	uncertain significance
rs751233129	2:60,679,781	G/A	—	uncertain significance
rs2466093973	2:60,679,803	T/G	—	uncertain significance
rs2466197301	2:60,687,576	C/T	—	uncertain significance
rs2466197744	2:60,687,606	G/A	—	uncertain significance
rs747182581	2:60,687,674	C/T	—	likely benign
rs2466199331	2:60,687,685	G/A	—	pathogenic
rs2103822086	2:60,687,710	A/C	—	uncertain significance
rs2466200392	2:60,687,753	G/A	—	uncertain significance
rs2466201470	2:60,687,791	C/G	—	uncertain significance
rs2466201515	2:60,687,796	A/G	—	uncertain significance
rs775970880	2:60,687,859	G/T	—	uncertain significance
rs763195769	2:60,687,861	C/T	—	uncertain significance
rs2466203907	2:60,687,886	T/C	—	uncertain significance
rs765066558	2:60,687,900	G/C	—	uncertain significance
rs554884428	2:60,687,909	C/T	—	uncertain significance
rs2466205629	2:60,687,943	G/C	—	uncertain significance
rs757462932	2:60,687,954	C/T	—	uncertain significance
rs7569946	2:60,687,959	G/A	—	benign
rs1231307423	2:60,687,965	G/A	—	likely benign
rs1676213395	2:60,687,978	T/C	—	uncertain significance
rs2466207580	2:60,688,006	G/T	—	uncertain significance
rs1164537222	2:60,688,012	A/C	—	uncertain significance
rs149363449	2:60,688,076	C/T	—	likely benign
rs1558611484	2:60,688,085	G/A	—	likely benign
rs1325893280	2:60,688,118	G/C	—	uncertain significance
rs146235767	2:60,688,122	A/C	—	conflicting classifications of pathogenicity
rs562257210	2:60,688,155	G/T	—	uncertain significance
rs1221786015	2:60,688,207	A/G	—	uncertain significance
rs1303665345	2:60,688,216	C/A	—	pathogenic
rs762418191	2:60,688,231	C/T	—	uncertain significance
rs768112365	2:60,688,252	C/T	—	likely benign
rs1212578579	2:60,688,288	C/T	—	uncertain significance
rs1489297664	2:60,688,292	G/T	—	likely pathogenic
rs1676247636	2:60,688,312	C/T	—	uncertain significance
rs1676248432	2:60,688,320	G/A	—	uncertain significance
rs114252508	2:60,688,331	G/A	—	likely benign
rs1035169575	2:60,688,332	C/T	—	uncertain significance
rs772034765	2:60,688,337	A/T	—	likely benign
rs2103836035	2:60,688,372	T/C	—	conflicting classifications of pathogenicity
rs770356174	2:60,688,384	T/A	—	pathogenic
rs201627623	2:60,688,391	G/A	—	uncertain significance
rs1010158797	2:60,688,422	G/T	—	uncertain significance
rs1435763708	2:60,688,443	C/T	—	uncertain significance
rs368418687	2:60,688,448	G/A	—	likely benign
rs200811371	2:60,688,452	G/C	—	uncertain significance
rs765532161	2:60,688,453	C/T	—	uncertain significance
rs1676264706	2:60,688,458	C/A	—	uncertain significance
rs61754123	2:60,688,484	C/T	—	benign
rs1676269843	2:60,688,500	C/T	—	uncertain significance
rs147119753	2:60,688,502	G/A	—	likely benign
rs1436931849	2:60,688,514	C/T	—	uncertain significance
rs2466230694	2:60,688,543	C/A	—	likely pathogenic
rs1469971324	2:60,688,554	T/C	—	uncertain significance
rs2466231694	2:60,688,561	C/A	—	pathogenic
rs1676277997	2:60,688,573	C/T	—	conflicting classifications of pathogenicity
rs142546955	2:60,688,574	G/A	—	likely benign
rs141406273	2:60,688,580	C/A	—	likely benign
rs371309905	2:60,688,630	C/A	—	pathogenic
rs2466236484	2:60,688,672	C/T	—	uncertain significance
rs17028351	2:60,688,696	C/T	—	uncertain significance
rs2466237999	2:60,688,705	G/A	—	uncertain significance
rs145961985	2:60,688,736	C/T	—	likely benign
rs142120696	2:60,688,739	G/A	—	likely benign
rs2466239752	2:60,688,752	G/A	—	uncertain significance
rs773213221	2:60,688,764	A/T	—	uncertain significance
rs2103848148	2:60,688,803	G/C	—	uncertain significance
rs1676302520	2:60,688,817	G/T	—	likely pathogenic
rs1572952145	2:60,688,886	T/C	—	likely benign
rs1378150120	2:60,688,898	G/T	—	likely benign
rs147757821	2:60,688,928	C/T	—	likely benign
rs777891691	2:60,688,929	G/A	—	uncertain significance
rs1676309768	2:60,688,930	G/A	—	uncertain significance
rs1250985191	2:60,688,958	C/T	—	likely benign
rs746326118	2:60,688,969	G/C	—	uncertain significance
rs770055773	2:60,688,970	G/T	—	likely benign
rs761615676	2:60,688,971	G/C	—	uncertain significance
rs1225886726	2:60,689,032	T/C	—	uncertain significance
rs367763332	2:60,689,048	T/C	—	likely benign
rs1676326365	2:60,689,070	G/T	—	likely pathogenic
rs2466251520	2:60,689,079	G/A	—	uncertain significance
rs1553403551	2:60,689,095	T/A	—	pathogenic
rs116590886	2:60,689,147	C/T	—	likely benign
rs1269007948	2:60,689,256	G/C	—	uncertain significance
rs1572953335	2:60,689,263	T/G	—	uncertain significance
rs2466261312	2:60,689,313	C/G	—	uncertain significance
rs1322661274	2:60,689,385	C/T	—	uncertain significance
rs2466266409	2:60,689,459	T/G	—	uncertain significance
rs1676365993	2:60,689,471	A/C	—	likely benign
rs1676366216	2:60,689,477	C/G	—	uncertain significance
rs2466267348	2:60,689,490	A/C	—	uncertain significance
rs112723917	2:60,689,507	G/C	—	benign
rs2466267958	2:60,689,508	G/A	—	uncertain significance
rs1553403736	2:60,689,518	G/A	—	pathogenic
rs61748090	2:60,689,522	A/G	—	likely benign
rs2466268951	2:60,689,532	C/G	—	uncertain significance
rs2466269611	2:60,689,560	C/T	—	pathogenic
rs149258940	2:60,695,893	C/G	—	uncertain significance
rs927782438	2:60,695,897	T/A	—	uncertain significance

Showing 100 of 166 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.