ANO6

anoctamin 6

Summary

This gene encodes a multi-pass transmembrane protein that belongs to the anoctamin family. This protein is an essential component for the calcium-dependent exposure of phosphatidylserine on the cell surface. The scrambling of phospholipid occurs in various biological systems, such as when blood platelets are activated, they expose phosphatidylserine to trigger the clotting system. Mutations in this gene are associated with Scott syndrome. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Mar 2011]

Known Variants224 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs371431879	12:45,610,124	A/G	—	uncertain significance
rs140379296	12:45,610,152	G/C	—	conflicting classifications of pathogenicity
rs11612203	12:45,610,426	C/T	—	benign
rs10748415	12:45,664,213	G/A	—	benign
rs7307262	12:45,686,980	A/C	—	benign
rs4140756	12:45,695,735	C/A	—	benign
rs755293132	12:45,695,781	A/G	—	likely benign
rs2547429703	12:45,695,793	T/C	—	likely benign
rs747050781	12:45,695,797	T/C	—	uncertain significance
rs147136935	12:45,695,820	A/T	—	conflicting classifications of pathogenicity
rs755547563	12:45,695,827	C/T	—	uncertain significance
rs7299561	12:45,695,828	C/T	—	benign
rs779178480	12:45,695,832	T/G	—	uncertain significance
rs1028909766	12:45,695,834	G/A	—	likely benign
rs748511778	12:45,695,853	C/T	—	uncertain significance
rs770877324	12:45,695,869	C/T	—	uncertain significance
rs775591959	12:45,695,870	G/A	—	likely benign
rs140330230	12:45,695,890	C/T	—	benign
rs530927231	12:45,707,831	C/T	—	—
rs11182983	12:45,724,789	G/A	—	benign
rs2547450664	12:45,725,058	T/C	—	likely benign
rs533103339	12:45,725,086	T/C	—	benign
rs200785570	12:45,725,088	A/G	—	uncertain significance
rs2547450729	12:45,725,101	C/G	—	uncertain significance
rs771713040	12:45,725,116	T/A	—	conflicting classifications of pathogenicity
rs2547450764	12:45,725,119	T/C	—	likely benign
rs2547450795	12:45,725,133	T/A	—	uncertain significance
rs765775901	12:45,725,144	C/A	—	uncertain significance
rs1374739486	12:45,725,146	A/C	—	likely benign
rs145969134	12:45,725,155	G/A	—	benign
rs138413111	12:45,725,158	T/C	—	likely benign
rs369239470	12:45,725,166	G/A	—	uncertain significance
rs140147341	12:45,725,203	A/G	—	likely benign
rs769249049	12:45,725,215	T/G	—	likely benign
rs776079108	12:45,725,219	G/A	—	likely benign
rs763302571	12:45,725,221	T/C	—	benign
rs377757539	12:45,740,819	A/G	—	likely benign
rs144406887	12:45,740,822	C/G	—	pathogenic
rs2547461186	12:45,740,849	G/A	—	likely benign
rs148800881	12:45,740,851	A/G	—	conflicting classifications of pathogenicity
rs140712928	12:45,740,858	A/C	—	uncertain significance
rs371921209	12:45,741,807	A/G	—	likely benign
rs144883809	12:45,741,846	C/T	—	likely benign
rs2162321	12:45,741,847	G/A	—	benign
rs373469010	12:45,741,864	A/T	—	uncertain significance
rs76963647	12:45,741,870	G/A	—	benign
rs1216530333	12:45,741,872	A/G	—	uncertain significance
rs201883819	12:45,741,881	T/C	—	uncertain significance
rs772753019	12:45,741,919	A/G	—	uncertain significance
rs766416224	12:45,741,926	G/A	—	conflicting classifications of pathogenicity
rs1016077957	12:45,741,932	C/T	—	uncertain significance
rs750310901	12:45,741,978	C/T	—	likely benign
rs545233834	12:45,741,985	A/G	—	uncertain significance
rs1422575811	12:45,742,003	G/T	—	pathogenic
rs116758964	12:45,742,033	C/T	—	uncertain significance
rs201794979	12:45,742,034	G/A	—	uncertain significance
rs145491348	12:45,742,042	G/T	—	uncertain significance
rs1008915451	12:45,742,051	A/G	—	uncertain significance
rs375015301	12:45,742,062	A/G	—	likely benign
rs560035728	12:45,742,117	T/A	—	likely benign
rs530881411	12:45,742,294	T/C	—	benign
rs2547462651	12:45,742,300	G/A	—	likely pathogenic
rs1430291301	12:45,742,326	A/T	—	uncertain significance
rs756474608	12:45,742,415	G/A	—	pathogenic
rs17095781	12:45,742,517	A/G	—	benign
rs75816509	12:45,744,434	C/T	—	uncertain significance
rs4108250	12:45,744,435	G/A	—	benign
rs368602020	12:45,744,451	C/T	—	uncertain significance
rs372568985	12:45,744,454	C/T	—	uncertain significance
rs1158578678	12:45,744,480	T/A	—	likely benign
rs2547463989	12:45,744,498	G/C	—	likely benign
rs761437689	12:45,744,520	C/T	—	pathogenic
rs772758085	12:45,744,521	G/A	—	uncertain significance
rs763615507	12:45,751,098	A/G	—	uncertain significance
rs1218309149	12:45,751,109	T/C	—	likely benign
rs1157920639	12:45,751,120	A/G	—	uncertain significance
rs2547468199	12:45,751,131	A/G	—	uncertain significance
rs145896287	12:45,751,145	C/T	—	likely benign
rs777413788	12:45,751,146	G/A	—	uncertain significance
rs1426781388	12:45,751,152	G/A	—	uncertain significance
rs1268663050	12:45,751,178	A/G	—	likely benign
rs138627790	12:45,751,212	C/G	—	benign
rs74080843	12:45,761,452	T/C	—	benign
rs2547474723	12:45,761,459	C/T	—	likely benign
rs970330630	12:45,761,485	A/G	—	uncertain significance
rs755586644	12:45,761,503	A/G	—	uncertain significance
rs1376244974	12:45,761,513	G/T	—	uncertain significance
rs199820346	12:45,761,540	A/C	—	likely benign
rs773310513	12:45,761,565	G/A	—	uncertain significance
rs771043019	12:45,761,588	T/G	—	likely benign
rs2137545693	12:45,771,836	A/T	—	pathogenic
rs371105208	12:45,771,850	C/T	—	likely benign
rs776677740	12:45,771,865	C/G	—	likely benign
rs12230667	12:45,772,034	G/A	—	benign
rs17095830	12:45,774,908	A/G	intron variant	—
rs145904853	12:45,781,927	T/C	—	benign
rs751953918	12:45,781,970	C/T	—	pathogenic
rs531217156	12:45,781,973	C/T	—	uncertain significance
rs781608617	12:45,781,974	G/A	—	uncertain significance
rs148214957	12:45,782,031	C/T	—	uncertain significance

Showing 100 of 224 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.