ANKS1B

ankyrin repeat and sterile alpha motif domain containing 1B

Summary

This gene encodes a multi-domain protein that is predominantly expressed in brain and testis. This protein interacts with amyloid beta protein precursor (AbetaPP) and may have a role in normal brain development, and in the pathogenesis of Alzheimer's disease. Expression of this gene has been shown to be elevated in patients with pre-B cell acute lymphocytic leukemia associated with t(1;19) translocation. Alternatively spliced transcript variants encoding different isoforms (some with different subcellular localization, PMID:15004329) have been described for this gene. [provided by RefSeq, Aug 2011]

Known Variants97 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs758073552	12:99,129,394	G/A	—	uncertain significance
rs17028658	12:99,132,112	T/C	regulatory region variant	—
rs752252888	12:99,139,552	C/T	—	likely benign
rs536378717	12:99,145,135	C/T	—	uncertain significance
rs2098087373	12:99,145,176	G/C	—	uncertain significance
rs759880783	12:99,166,954	T/C	—	uncertain significance
rs2549593303	12:99,166,959	T/C	—	uncertain significance
rs1229498461	12:99,174,893	A/G	—	likely pathogenic
rs2036225	12:99,190,372	C/A	—	—
rs1321220779	12:99,192,771	T/C	—	uncertain significance
rs758076696	12:99,194,849	C/T	—	uncertain significance
rs2550509018	12:99,194,851	G/A	—	uncertain significance
rs2551047612	12:99,223,037	A/C	—	uncertain significance
rs749197671	12:99,223,038	T/C	—	uncertain significance
rs771639722	12:99,223,110	G/A	—	uncertain significance
rs1200085942	12:99,225,848	C/T	—	uncertain significance
rs535103876	12:99,261,701	C/A	—	—
rs1549102	12:99,282,746	A/T	—	—
rs483610	12:99,334,529	C/T	intron variant	—
rs756176272	12:99,446,939	A/G	—	uncertain significance
rs1397133366	12:99,447,050	G/A	—	uncertain significance
rs546988443	12:99,478,730	A/C	—	uncertain significance
rs370624589	12:99,478,748	A/G	—	likely benign
rs761992858	12:99,478,794	T/C	—	uncertain significance
rs7313721	12:99,481,084	A/G	—	—
rs10745843	12:99,496,030	G/C	—	—
rs10860392	12:99,498,187	C/T	intron variant	—
rs7978433	12:99,511,171	G/A	intron variant	—
rs2372730	12:99,517,068	G/T	—	—
rs371158953	12:99,548,124	C/T	—	benign
rs181541718	12:99,548,232	G/A	—	benign
rs513022	12:99,562,662	C/G	—	—
rs2263049	12:99,584,843	A/G	intron variant	—
rs2712667	12:99,588,917	G/C	intron variant	—
rs758471310	12:99,638,166	A/C	—	uncertain significance
rs756055626	12:99,640,096	C/G	—	uncertain significance
rs200534823	12:99,640,106	T/C	—	conflicting classifications of pathogenicity
rs180896075	12:99,640,157	T/C	—	likely benign
rs2073887896	12:99,640,178	C/T	—	uncertain significance
rs1314803484	12:99,640,217	C/G	—	uncertain significance
rs768251877	12:99,640,264	C/G	—	uncertain significance
rs201939819	12:99,640,268	C/T	—	uncertain significance
rs750291571	12:99,640,297	T/C	—	uncertain significance
rs746679510	12:99,640,301	C/T	—	uncertain significance
rs774651652	12:99,640,349	G/T	—	uncertain significance
rs267603734	12:99,640,355	C/T	—	uncertain significance
rs185927825	12:99,640,356	G/A	—	likely benign
rs760851661	12:99,640,441	A/G	—	uncertain significance
rs777180976	12:99,640,499	T/C	—	likely benign
rs746302251	12:99,640,508	G/T	—	uncertain significance
rs753404598	12:99,640,582	G/C	—	uncertain significance
rs1424910390	12:99,640,609	G/C	—	uncertain significance
rs375089730	12:99,640,630	C/T	—	likely benign
rs74712860	12:99,640,652	G/A	—	benign
rs12580615	12:99,753,157	G/A	intron variant	—
rs1157898211	12:99,793,465	G/A	—	uncertain significance
rs771962477	12:99,793,478	G/C	—	uncertain significance
rs7968606	12:99,816,842	C/T	intron variant	—
rs1462944901	12:99,837,524	C/T	—	uncertain significance
rs2519846495	12:99,837,574	C/A	—	uncertain significance
rs371800284	12:99,837,587	T/C	—	uncertain significance
rs191591035	12:99,868,285	G/C	intron variant	—
rs763109064	12:99,898,298	T/G	—	uncertain significance
rs149593813	12:99,898,303	T/C	—	likely benign
rs753734754	12:99,898,318	C/A	—	uncertain significance
rs201049419	12:99,898,391	G/T	—	uncertain significance
rs774469792	12:99,898,397	T/C	—	uncertain significance
rs1347833621	12:99,898,406	T/A	—	uncertain significance
rs754792204	12:99,898,418	T/C	—	uncertain significance
rs1961649	12:99,904,540	A/T	intron variant	—
rs2373011	12:99,961,349	C/A	—	—
rs187864864	12:99,973,126	T/C	intron variant	—
rs112162917	12:100,042,172	G/A	—	benign
rs374453521	12:100,048,923	C/T	—	likely benign
rs79164944	12:100,048,951	A/G	—	benign
rs757460105	12:100,048,977	A/G	—	likely benign
rs145524525	12:100,125,361	C/T	—	—
rs374815422	12:100,166,797	G/A	—	uncertain significance
rs2542228555	12:100,166,862	T/G	—	uncertain significance
rs2542228632	12:100,166,863	T/G	—	uncertain significance
rs2542297733	12:100,169,413	T/C	—	likely benign
rs116525095	12:100,169,425	C/T	—	benign
rs2542298493	12:100,169,430	T/C	—	uncertain significance
rs755346361	12:100,200,303	G/T	—	uncertain significance
rs35761686	12:100,200,380	T/C	—	benign
rs1289979271	12:100,205,992	C/T	—	uncertain significance
rs79589060	12:100,206,029	C/A	—	benign
rs143986093	12:100,219,101	G/T	—	likely benign
rs144998814	12:100,220,505	T/C	intron variant	—
rs181482505	12:100,223,601	C/T	intron variant	—
rs61940318	12:100,263,190	G/A	intron variant	—
rs11110077	12:100,266,113	C/T	—	—
rs10745877	12:100,274,330	G/A	intron variant	—
rs11110099	12:100,292,721	C/T	—	—
rs7132513	12:100,324,975	C/A	—	—
rs75132655	12:100,349,422	T/G	intron variant	—
rs199962831	12:100,378,010	C/T	—	benign

Gene information from NCBI Gene. Variant classifications from ClinVar.