AMER1

APC membrane recruitment protein 1

Summary

The protein encoded by this gene upregulates trancriptional activation by the Wilms tumor protein and interacts with many other proteins, including CTNNB1, APC, AXIN1, and AXIN2. Defects in this gene are a cause of osteopathia striata with cranial sclerosis (OSCS). [provided by RefSeq, May 2010]

Known Variants375 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs372461050	X:63,409,759	C/T	—	likely benign
rs1930203030	X:63,409,761	A/G	—	uncertain significance
rs766945332	X:63,409,790	G/A	—	uncertain significance
rs1167718696	X:63,409,792	G/A	—	likely benign
rs1027220324	X:63,409,798	G/C	—	uncertain significance
rs754401246	X:63,409,809	G/A	—	benign
rs200797349	X:63,409,831	C/T	—	benign
rs745609861	X:63,409,837	T/C	—	benign
rs1930205301	X:63,409,839	A/T	—	uncertain significance
rs2147084086	X:63,409,881	G/A	—	uncertain significance
rs1314155750	X:63,409,890	C/T	—	uncertain significance
rs1176926572	X:63,409,893	G/A	—	uncertain significance
rs200157619	X:63,409,894	C/T	—	benign
rs375850061	X:63,409,896	G/A	—	likely benign
rs2147084131	X:63,409,901	C/G	—	uncertain significance
rs2521198417	X:63,409,902	T/C	—	uncertain significance
rs1375155725	X:63,409,919	C/A	—	uncertain significance
rs1043065176	X:63,409,939	C/T	—	likely benign
rs1930207901	X:63,409,941	T/A	—	pathogenic
rs1204348341	X:63,409,944	C/T	—	uncertain significance
rs1275105010	X:63,409,952	A/G	—	uncertain significance
rs1484188656	X:63,409,969	G/A	—	likely benign
rs2147084356	X:63,409,991	C/T	—	uncertain significance
rs1930209384	X:63,409,996	C/G	—	uncertain significance
rs2521199620	X:63,410,006	G/A	—	uncertain significance
rs751054920	X:63,410,016	C/T	—	uncertain significance
rs780779666	X:63,410,022	G/A	—	uncertain significance
rs2147084459	X:63,410,031	C/T	—	uncertain significance
rs369116388	X:63,410,037	T/C	—	conflicting classifications of pathogenicity
rs749108138	X:63,410,038	G/A	—	likely benign
rs373315882	X:63,410,040	T/C	—	benign
rs1431998774	X:63,410,044	G/C	—	likely benign
rs1291341410	X:63,410,053	T/C	—	likely benign
rs748190147	X:63,410,058	G/A	—	uncertain significance
rs201899164	X:63,410,075	C/T	—	likely benign
rs763827864	X:63,410,094	G/C	—	benign
rs890931254	X:63,410,098	G/T	—	likely benign
rs761242587	X:63,410,102	C/T	—	uncertain significance
rs61730681	X:63,410,110	T/C	—	benign
rs749995763	X:63,410,111	T/C	—	likely benign
rs1930213354	X:63,410,130	G/A	—	uncertain significance
rs1930213571	X:63,410,137	T/C	—	likely benign
rs376717602	X:63,410,141	T/C	—	benign
rs995009774	X:63,410,145	G/A	—	uncertain significance
rs2147084747	X:63,410,148	C/T	—	uncertain significance
rs1163517592	X:63,410,154	G/A	—	likely benign
rs1026604955	X:63,410,156	G/A	—	uncertain significance
rs778870447	X:63,410,157	A/G	—	uncertain significance
rs757257940	X:63,410,158	T/C	—	benign
rs2147084804	X:63,410,168	G/T	—	uncertain significance
rs747124947	X:63,410,172	T/C	—	likely benign
rs193301404	X:63,410,188	G/C	—	benign
rs2147084865	X:63,410,190	T/A	—	uncertain significance
rs2147084869	X:63,410,191	T/G	—	likely benign
rs1329830726	X:63,410,203	T/C	—	likely benign
rs1202984802	X:63,410,205	G/T	—	uncertain significance
rs1187930100	X:63,410,213	C/T	—	uncertain significance
rs763440022	X:63,410,221	C/T	—	benign
rs376353035	X:63,410,224	G/A	—	likely benign
rs1412030993	X:63,410,234	T/C	—	benign
rs2147084963	X:63,410,237	G/T	—	uncertain significance
rs2147084982	X:63,410,245	C/T	—	uncertain significance
rs2147085004	X:63,410,254	A/G	—	likely benign
rs968815543	X:63,410,268	G/A	—	uncertain significance
rs374729339	X:63,410,270	A/G	—	conflicting classifications of pathogenicity
rs1351220217	X:63,410,276	C/G	—	uncertain significance
rs758378585	X:63,410,280	G/A	—	likely benign
rs777905301	X:63,410,283	C/T	—	conflicting classifications of pathogenicity
rs1435765495	X:63,410,292	G/T	—	uncertain significance
rs780015689	X:63,410,293	C/A	—	likely benign
rs370290063	X:63,410,298	C/T	—	uncertain significance
rs774865991	X:63,410,335	A/G	—	likely benign
rs368031008	X:63,410,342	C/T	—	likely benign
rs1187072976	X:63,410,362	C/T	—	likely benign
rs945869656	X:63,410,370	C/T	—	conflicting classifications of pathogenicity
rs2147085315	X:63,410,382	C/G	—	uncertain significance
rs2147085417	X:63,410,429	T/C	—	uncertain significance
rs2147085426	X:63,410,433	C/T	—	uncertain significance
rs2147085463	X:63,410,454	C/T	—	likely benign
rs1602066815	X:63,410,464	G/A	—	likely benign
rs2147085487	X:63,410,468	T/G	—	uncertain significance
rs769040672	X:63,410,479	G/A	—	benign
rs2147085521	X:63,410,484	A/T	—	uncertain significance
rs779325879	X:63,410,486	C/T	—	likely benign
rs748618414	X:63,410,487	G/A	—	uncertain significance
rs2147085537	X:63,410,489	C/T	—	uncertain significance
rs2147085597	X:63,410,513	G/C	—	uncertain significance
rs201092215	X:63,410,516	G/A	—	likely benign
rs2147085618	X:63,410,521	A/C	—	likely benign
rs2147085620	X:63,410,523	G/T	—	uncertain significance
rs372769953	X:63,410,525	C/A	—	conflicting classifications of pathogenicity
rs750449400	X:63,410,526	G/C	—	uncertain significance
rs185526526	X:63,410,529	G/A	—	likely benign
rs2521205790	X:63,410,544	G/A	—	likely benign
rs1458489008	X:63,410,550	A/G	—	likely benign
rs2147085686	X:63,410,556	G/A	—	uncertain significance
rs2147085760	X:63,410,585	C/A	—	uncertain significance
rs369090354	X:63,410,590	G/A	—	likely benign
rs758807218	X:63,410,597	C/T	—	likely benign
rs1314447711	X:63,410,600	C/T	—	uncertain significance

Showing 100 of 375 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.