PBRM1

polybromo 1

Summary

This locus encodes a subunit of ATP-dependent chromatin-remodeling complexes. The encoded protein has been identified as in integral component of complexes necessary for ligand-dependent transcriptional activation by nuclear hormone receptors. Mutations at this locus have been associated with primary clear cell renal cell carcinoma. [provided by RefSeq, Feb 2012]

Known Variants73 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs201397730	3:52,582,240	C/T	—	not provided
rs142726131	3:52,584,478	G/A	—	not provided
rs144852450	3:52,584,587	G/A	—	uncertain significance
rs2878628	3:52,584,715	A/G	—	benign
rs2251219	3:52,584,787	T/C	synonymous variant	—
rs1961959	3:52,585,760	G/T	—	—
rs2336142	3:52,588,655	G/A	—	benign
rs139804442	3:52,596,723	T/G	downstream gene variant	—
rs1336911500	3:52,597,431	C/A	—	uncertain significance
rs2289249	3:52,597,664	G/A	—	benign
rs1987234	3:52,598,359	T/C	—	benign
rs13059862	3:52,598,540	G/A	—	benign
rs6798246	3:52,599,922	G/T	—	—
rs75404951	3:52,600,705	A/G	intron variant	—
rs7652191	3:52,610,415	T/C	—	benign
rs2028220	3:52,610,513	T/C	—	benign
rs17264436	3:52,610,651	T/A	synonymous variant	—
rs34115864	3:52,612,178	A/G	intron variant	—
rs11718509	3:52,614,670	G/A	downstream gene variant	—
rs7614498	3:52,618,941	A/T	intron variant	—
rs567693710	3:52,620,347	C/T	—	—
rs72947594	3:52,620,714	G/T	—	benign
rs80314598	3:52,620,745	G/A	—	benign
rs553016583	3:52,620,763	T/A	—	—
rs3733046	3:52,621,627	C/T	—	benign
rs3852066	3:52,621,839	C/T	—	benign
rs2590838	3:52,622,086	G/A	intron variant	—
rs587778591	3:52,623,235	C/A	—	not provided
rs35225119	3:52,623,465	A/T	—	benign
rs2336147	3:52,626,443	T/C	intron variant	—
rs2118540	3:52,629,386	T/C	intron variant	—
rs12107484	3:52,632,093	T/C	intron variant	—
rs17052322	3:52,637,439	T/C	—	benign
rs2276824	3:52,637,486	C/G	—	benign
rs3733045	3:52,643,307	A/G	—	benign
rs142197601	3:52,643,343	T/G	—	benign
rs116061365	3:52,643,976	A/G	—	benign
rs2590841	3:52,644,133	T/A	—	benign
rs9879090	3:52,648,265	T/A	—	—
rs6803492	3:52,649,090	C/G	—	benign
rs13083798	3:52,649,748	A/G	—	benign
rs2153491813	3:52,651,557	G/C	—	uncertain significance
rs587777964	3:52,658,955	T/C	—	not provided
rs147488144	3:52,661,351	G/A	—	likely benign
rs35249778	3:52,661,640	G/C	—	benign
rs6445529	3:52,662,722	T/A	—	benign
rs57869735	3:52,662,850	A/C	—	benign
rs373477703	3:52,668,822	T/C	—	not provided
rs11719514	3:52,672,531	T/A	—	—
rs547192858	3:52,673,015	C/G	—	—
rs547790173	3:52,676,059	T/C	—	not provided
rs11719685	3:52,676,065	C/A	—	likely benign
rs11130313	3:52,676,190	A/C	—	benign
rs13099479	3:52,677,478	A/G	—	benign
rs13086297	3:52,678,494	G/A	—	benign
rs56134416	3:52,678,531	G/C	—	benign
rs138200462	3:52,678,621	A/G	—	benign
rs34757451	3:52,682,205	G/A	—	benign
rs587778593	3:52,682,437	G/T	—	not provided
rs113236534	3:52,683,105	C/T	intron variant	—
rs4234636	3:52,686,087	A/C	—	benign
rs115689148	3:52,686,127	T/C	—	benign
rs2336149	3:52,692,124	G/A	—	benign
rs2590846	3:52,692,359	C/G	—	benign
rs112063024	3:52,692,786	A/C	intron variant	—
rs7651709	3:52,695,861	C/T	—	benign
rs587778592	3:52,696,268	C/A	—	not provided
rs116758482	3:52,696,303	G/C	—	benign
rs72950432	3:52,696,352	T/C	—	benign
rs72950434	3:52,702,506	T/C	—	benign
rs12493107	3:52,706,724	G/T	intron variant	—
rs6796577	3:52,712,459	T/C	—	benign
rs71299614	3:52,716,943	C/T	—	—

Gene information from NCBI Gene. Variant classifications from ClinVar.