BRWD3

bromodomain and WD repeat domain containing 3

Summary

The protein encoded by this gene contains a bromodomain and several WD repeats. It is thought to have a chromatin-modifying function, and may thus play a role in transcription. Mutations in this gene are associated with a spectrum of cognitive disabilities and X-linked macrocephaly. This gene is also associated with translocations in patients with B-cell chronic lymphocytic leukemia. [provided by RefSeq, Jul 2017]

Known Variants557 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs1057515992	X:79,925,151	G/C	—	uncertain significance
rs188498975	X:79,925,206	C/T	—	benign
rs567910666	X:79,925,237	C/A	—	uncertain significance
rs2063579	X:79,925,246	A/G	—	benign
rs2072310229	X:79,925,416	T/C	—	uncertain significance
rs192201825	X:79,925,468	A/T	—	benign
rs1166674482	X:79,925,657	A/G	—	uncertain significance
rs375704347	X:79,925,669	C/T	—	conflicting classifications of pathogenicity
rs11266586	X:79,925,777	G/C	—	benign
rs1057515993	X:79,925,860	T/C	—	uncertain significance
rs1057515994	X:79,925,911	A/G	—	uncertain significance
rs142555243	X:79,925,951	G/A	—	benign
rs7065450	X:79,926,115	C/G	—	benign
rs759779733	X:79,926,318	C/T	—	conflicting classifications of pathogenicity
rs765604641	X:79,926,335	T/G	—	conflicting classifications of pathogenicity
rs139358289	X:79,926,367	C/A	—	benign
rs1057515995	X:79,926,594	A/G	—	uncertain significance
rs12690214	X:79,926,627	T/G	—	benign
rs41306245	X:79,926,647	A/C	—	benign
rs180875963	X:79,926,775	C/A	—	benign
rs760065405	X:79,926,844	C/A	—	benign
rs41300244	X:79,926,966	T/C	—	conflicting classifications of pathogenicity
rs41307391	X:79,926,975	C/A	—	benign
rs41311569	X:79,927,299	A/C	—	benign
rs1439226627	X:79,927,447	T/C	—	uncertain significance
rs1057515996	X:79,927,527	G/A	—	uncertain significance
rs190439155	X:79,927,836	G/A	—	benign
rs184070793	X:79,927,885	G/A	—	benign
rs189047883	X:79,927,914	G/T	—	likely benign
rs765392888	X:79,927,969	A/G	—	uncertain significance
rs45627037	X:79,928,258	C/G	—	benign
rs146779779	X:79,928,321	A/G	—	benign
rs2072334243	X:79,928,370	T/C	—	uncertain significance
rs879201626	X:79,928,514	A/G	—	uncertain significance
rs116559809	X:79,928,625	C/T	—	benign
rs767696195	X:79,928,661	C/T	—	benign
rs769363805	X:79,928,731	A/C	—	uncertain significance
rs765169545	X:79,928,815	G/T	—	uncertain significance
rs2072338016	X:79,928,856	A/G	—	uncertain significance
rs987452216	X:79,929,025	C/A	—	uncertain significance
rs187241080	X:79,929,231	C/T	—	uncertain significance
rs926354680	X:79,929,233	T/C	—	uncertain significance
rs3810676	X:79,929,277	G/A	—	benign
rs148045997	X:79,929,364	T/C	—	likely benign
rs756899423	X:79,929,385	T/C	—	benign
rs898420202	X:79,929,398	C/T	—	uncertain significance
rs1028184110	X:79,929,482	G/A	—	uncertain significance
rs1057516000	X:79,929,514	A/G	—	uncertain significance
rs1009993995	X:79,929,695	A/T	—	uncertain significance
rs1057516001	X:79,929,779	T/A	—	uncertain significance
rs191690327	X:79,929,785	C/T	—	benign
rs184067970	X:79,929,954	T/C	—	uncertain significance
rs193085939	X:79,930,116	C/T	—	benign
rs1057516002	X:79,930,213	G/C	—	uncertain significance
rs960827578	X:79,930,288	C/G	—	uncertain significance
rs1057516003	X:79,930,405	A/G	—	uncertain significance
rs180892443	X:79,930,516	C/G	—	benign
rs756025042	X:79,930,635	A/T	—	uncertain significance
rs1314935865	X:79,930,714	C/G	—	uncertain significance
rs41300257	X:79,930,736	A/T	—	benign
rs41300175	X:79,931,072	T/G	—	benign
rs897278146	X:79,931,261	C/T	—	uncertain significance
rs2072359014	X:79,931,306	T/C	—	uncertain significance
rs985109628	X:79,931,309	G/T	—	uncertain significance
rs776687351	X:79,931,533	C/A	—	benign
rs538786513	X:79,931,860	G/A	—	uncertain significance
rs760166411	X:79,931,987	G/C	—	uncertain significance
rs2520198592	X:79,932,172	G/T	—	uncertain significance
rs199676970	X:79,932,220	T/A	—	uncertain significance
rs2147666747	X:79,932,244	A/G	—	uncertain significance
rs2520198798	X:79,932,270	T/C	—	likely benign
rs918551619	X:79,932,280	C/T	—	uncertain significance
rs868344048	X:79,932,281	G/A	—	uncertain significance
rs2520198818	X:79,932,284	G/A	—	uncertain significance
rs776826501	X:79,932,288	T/C	—	benign
rs2147666844	X:79,932,309	C/G	—	uncertain significance
rs763128944	X:79,932,311	T/A	—	uncertain significance
rs768063593	X:79,932,339	T/G	—	benign
rs2147666884	X:79,932,344	G/A	—	likely pathogenic
rs146425236	X:79,932,387	C/A	—	benign
rs931613393	X:79,932,399	C/A	—	likely benign
rs1057524709	X:79,932,400	C/T	—	uncertain significance
rs200751676	X:79,932,416	C/T	—	conflicting classifications of pathogenicity
rs140852252	X:79,932,417	A/G	—	likely benign
rs1569242657	X:79,932,428	G/A	—	pathogenic
rs1332082581	X:79,932,436	C/T	—	uncertain significance
rs2072372599	X:79,932,437	G/A	—	pathogenic
rs143090181	X:79,932,439	C/A	—	uncertain significance
rs746056253	X:79,932,462	T/C	—	benign
rs2520199332	X:79,932,497	C/T	—	uncertain significance
rs1555961746	X:79,932,523	C/T	—	uncertain significance
rs2147667127	X:79,932,562	C/G	—	uncertain significance
rs762470311	X:79,932,610	A/C	—	uncertain significance
rs751798037	X:79,932,645	G/A	—	likely benign
rs2520199699	X:79,932,662	A/G	—	uncertain significance
rs999226556	X:79,932,668	T/A	—	uncertain significance
rs2520199740	X:79,932,694	T/C	—	uncertain significance
rs757838662	X:79,932,702	C/T	—	likely benign
rs1170132074	X:79,932,719	G/C	—	uncertain significance
rs2520199820	X:79,932,726	C/A	—	uncertain significance

Showing 100 of 557 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.