CHN1

chimerin 1

Summary

This gene encodes GTPase-activating protein for ras-related p21-rac and a phorbol ester receptor. It is predominantly expressed in neurons, and plays an important role in neuronal signal-transduction mechanisms. Mutations in this gene are associated with Duane's retraction syndrome 2 (DURS2). Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Apr 2011]

Known Variants99 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs759449440	2:175,664,088	G/A	—	uncertain significance
rs192645480	2:175,664,167	C/T	—	benign
rs369718610	2:175,664,176	A/G	—	likely benign
rs74780149	2:175,664,201	T/A	—	likely benign
rs562879539	2:175,664,209	T/G	—	uncertain significance
rs886055153	2:175,664,236	T/C	—	uncertain significance
rs144057045	2:175,664,280	C/T	—	uncertain significance
rs755474438	2:175,664,418	G/A	—	uncertain significance
rs1294339436	2:175,664,422	G/A	—	uncertain significance
rs996643545	2:175,664,507	C/G	—	uncertain significance
rs540973790	2:175,664,535	C/T	—	uncertain significance
rs771199357	2:175,664,588	G/A	—	uncertain significance
rs1023136528	2:175,664,592	G/A	—	uncertain significance
rs1198628794	2:175,664,646	T/C	—	uncertain significance
rs529610497	2:175,664,690	C/T	—	uncertain significance
rs1211907844	2:175,664,792	A/G	—	uncertain significance
rs143852940	2:175,664,816	A/G	—	benign
rs559753925	2:175,664,856	G/A	—	benign
rs755106615	2:175,664,882	C/T	—	uncertain significance
rs552090021	2:175,664,902	A/G	—	not provided
rs369847378	2:175,664,905	T/C	—	uncertain significance
rs1064796269	2:175,664,909	T/C	—	uncertain significance
rs778517881	2:175,664,923	G/A	—	not provided
rs1326246983	2:175,664,925	G/A	—	likely benign
rs375782530	2:175,665,008	G/A	—	uncertain significance
rs376483955	2:175,666,440	T/C	—	likely benign
rs1356504708	2:175,666,522	T/G	—	uncertain significance
rs765652152	2:175,666,528	G/A	—	uncertain significance
rs1684730153	2:175,666,537	A/C	—	pathogenic
rs375682634	2:175,673,645	T/C	—	uncertain significance
rs376051698	2:175,673,733	T/C	—	uncertain significance
rs764237103	2:175,676,233	A/C	—	uncertain significance
rs202153128	2:175,676,241	C/G	—	uncertain significance
rs121912798	2:175,676,266	C/T	missense variant	pathogenic
rs13398834	2:175,676,288	T/C	—	benign
rs200348318	2:175,676,297	T/C	—	benign
rs12613075	2:175,677,022	C/T	—	benign
rs751363901	2:175,677,135	T/C	—	uncertain significance
rs756331019	2:175,677,139	C/A	—	uncertain significance
rs121912797	2:175,677,168	G/T	missense variant	pathogenic
rs387906600	2:175,677,169	G/A	missense variant	uncertain significance
rs2468987837	2:175,689,162	C/A	—	uncertain significance
rs121912796	2:175,689,192	C/T	missense variant	pathogenic
rs2468987925	2:175,689,195	A/G	—	uncertain significance
rs121912795	2:175,689,206	G/A	missense variant	pathogenic
rs1558939623	2:175,689,207	C/T	—	likely pathogenic
rs1553475005	2:175,689,213	A/G	—	pathogenic
rs2468987994	2:175,689,231	C/T	—	likely pathogenic
rs529028832	2:175,689,261	G/A	—	uncertain significance
rs2469028528	2:175,711,615	T/C	—	uncertain significance
rs773684607	2:175,711,646	C/T	—	uncertain significance
rs146313212	2:175,711,647	G/A	—	conflicting classifications of pathogenicity
rs1327277589	2:175,711,681	G/A	—	uncertain significance
rs972339540	2:175,711,689	C/T	—	uncertain significance
rs760529847	2:175,711,690	G/A	—	conflicting classifications of pathogenicity
rs368672805	2:175,742,582	C/T	—	uncertain significance
rs752956891	2:175,742,617	G/A	—	uncertain significance
rs774441090	2:175,742,635	A/T	—	uncertain significance
rs772160492	2:175,742,647	T/C	—	uncertain significance
rs527929031	2:175,742,682	G/A	—	conflicting classifications of pathogenicity
rs886055154	2:175,742,685	C/G	—	uncertain significance
rs121912794	2:175,742,690	A/G	missense variant	pathogenic
rs387906599	2:175,742,695	G/A	missense variant	pathogenic
rs759793638	2:175,742,710	T/C	—	uncertain significance
rs1574117827	2:175,742,712	G/A	—	likely benign
rs121912793	2:175,742,739	A/C	missense variant	pathogenic
rs2469081713	2:175,742,740	A/G	—	uncertain significance
rs1301608361	2:175,742,756	A/C	—	uncertain significance
rs35358913	2:175,742,820	G/A	—	uncertain significance
rs187482682	2:175,742,822	A/G	—	uncertain significance
rs200043744	2:175,742,841	G/C	—	likely benign
rs62183358	2:175,765,390	G/A	—	—
rs201101396	2:175,779,805	T/C	—	likely benign
rs377261893	2:175,779,809	T/C	—	conflicting classifications of pathogenicity
rs183170934	2:175,779,815	C/T	—	likely benign
rs1452850610	2:175,779,821	G/C	—	uncertain significance
rs370140469	2:175,779,853	C/T	—	uncertain significance
rs557351535	2:175,779,868	C/T	—	uncertain significance
rs771446302	2:175,779,869	G/A	—	uncertain significance
rs767192888	2:175,779,903	A/C	—	uncertain significance
rs1349330974	2:175,783,281	G/C	—	uncertain significance
rs773234781	2:175,809,648	G/A	—	uncertain significance
rs1689781072	2:175,809,650	G/C	—	uncertain significance
rs371593822	2:175,809,663	G/A	—	likely benign
rs116136029	2:175,809,664	C/T	—	benign
rs2469191562	2:175,809,668	T/C	—	uncertain significance
rs121912792	2:175,809,670	T/A	missense variant	pathogenic
rs772006503	2:175,825,544	C/T	—	—
rs755734334	2:175,869,634	G/A	—	uncertain significance
rs1252265676	2:175,869,663	C/A	—	uncertain significance
rs775399462	2:175,869,676	G/A	—	uncertain significance
rs117866326	2:175,869,708	C/T	—	benign
rs886055155	2:175,869,714	G/A	—	uncertain significance
rs886055156	2:175,869,744	G/A	—	uncertain significance
rs572040045	2:175,869,800	G/C	—	uncertain significance
rs1379842544	2:175,869,846	C/T	—	uncertain significance
rs543170770	2:175,869,911	A/G	—	uncertain significance
rs879722535	2:175,869,938	G/C	—	uncertain significance
rs1692031513	2:175,869,993	G/A	—	uncertain significance

Gene information from NCBI Gene. Variant classifications from ClinVar.