SHANK1

SH3 and multiple ankyrin repeat domains 1

Summary

This gene encodes a member of the SHANK (SH3 domain and ankyrin repeat containing) family of proteins. Members of this family act as scaffold proteins that are required for the development and function of neuronal synapses. Deletions in this gene may be associated with autism spectrum disorder in males. [provided by RefSeq, Apr 2016]

Known Variants313 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs73042561	19:51,164,022	T/G	—	—
rs976098547	19:51,165,250	C/T	—	uncertain significance
rs377409628	19:51,165,270	G/A	—	likely benign
rs1029454217	19:51,165,280	G/T	—	uncertain significance
rs199809614	19:51,165,288	T/C	—	likely benign
rs145388631	19:51,165,297	G/A	—	likely benign
rs757609780	19:51,165,317	C/T	—	uncertain significance
rs201332785	19:51,165,335	C/T	—	uncertain significance
rs777036328	19:51,165,347	C/T	—	uncertain significance
rs10422259	19:51,165,420	C/T	—	benign
rs148157051	19:51,165,437	C/A	—	benign
rs370010826	19:51,165,441	C/T	—	likely benign
rs1171482245	19:51,165,453	G/A	—	likely benign
rs144116162	19:51,165,459	C/T	—	likely benign
rs2513863263	19:51,165,464	G/C	—	uncertain significance
rs368607332	19:51,165,474	C/T	—	likely benign
rs147232411	19:51,165,480	G/A	—	likely benign
rs372929923	19:51,165,493	G/A	—	uncertain significance
rs758872017	19:51,165,494	C/T	—	uncertain significance
rs759470326	19:51,165,521	C/T	—	likely benign
rs547176731	19:51,165,522	G/A	—	likely benign
rs140720832	19:51,165,531	C/T	—	likely benign
rs200883351	19:51,165,541	G/A	—	conflicting classifications of pathogenicity
rs978521339	19:51,165,552	T/C	—	likely benign
rs369631124	19:51,165,569	C/G	—	likely benign
rs1258374193	19:51,165,571	G/A	—	uncertain significance
rs764924872	19:51,165,602	G/A	—	conflicting classifications of pathogenicity
rs536260628	19:51,165,621	G/A	—	likely benign
rs150859202	19:51,165,628	G/T	—	likely benign
rs201925001	19:51,165,633	G/A	—	likely benign
rs533348368	19:51,165,667	G/A	—	uncertain significance
rs776218363	19:51,165,671	G/A	—	uncertain significance
rs372345672	19:51,165,703	G/A	—	uncertain significance
rs200577881	19:51,165,737	G/A	—	uncertain significance
rs955835506	19:51,165,738	C/T	—	uncertain significance
rs200592795	19:51,165,743	C/T	—	uncertain significance
rs201403182	19:51,165,752	C/T	—	likely benign
rs760903790	19:51,165,756	C/G	—	uncertain significance
rs759040809	19:51,165,767	G/T	—	uncertain significance
rs528793989	19:51,165,817	G/A	—	uncertain significance
rs778469285	19:51,165,819	A/G	—	likely benign
rs199610046	19:51,165,820	G/C	—	likely benign
rs573808764	19:51,165,822	G/A	—	benign
rs2123059910	19:51,165,832	G/A	—	uncertain significance
rs766455027	19:51,165,859	G/A	—	uncertain significance
rs1444862126	19:51,165,902	G/T	—	uncertain significance
rs139140465	19:51,165,918	G/A	—	likely benign
rs2513872779	19:51,169,447	A/C	—	uncertain significance
rs2123070912	19:51,169,449	C/T	—	uncertain significance
rs549051295	19:51,169,477	C/T	—	likely benign
rs746633558	19:51,169,483	C/T	—	uncertain significance
rs200413731	19:51,169,485	T/C	—	likely benign
rs1985505411	19:51,169,527	C/A	—	likely benign
rs778008546	19:51,169,545	A/G	—	uncertain significance
rs751035857	19:51,169,680	G/A	—	uncertain significance
rs1985518822	19:51,169,732	T/G	—	uncertain significance
rs755137324	19:51,169,746	G/A	—	uncertain significance
rs2513874216	19:51,169,749	G/A	—	uncertain significance
rs2513874271	19:51,169,759	G/A	—	uncertain significance
rs928518446	19:51,169,772	C/T	—	likely benign
rs756226882	19:51,169,773	G/A	—	likely benign
rs1055722122	19:51,169,776	C/A	—	uncertain significance
rs1290961486	19:51,169,789	C/T	—	uncertain significance
rs2513874472	19:51,169,790	T/A	—	likely benign
rs184259943	19:51,169,797	G/A	—	likely benign
rs1433344069	19:51,169,800	G/A	—	uncertain significance
rs200473891	19:51,169,830	C/T	—	likely benign
rs778008128	19:51,169,893	C/A	—	uncertain significance
rs868326782	19:51,169,921	C/G	—	uncertain significance
rs1265805967	19:51,169,935	G/T	—	uncertain significance
rs1985532343	19:51,169,944	C/T	—	uncertain significance
rs1985533025	19:51,169,956	G/A	—	uncertain significance
rs2123073396	19:51,169,959	G/A	—	uncertain significance
rs1273987625	19:51,170,004	C/G	—	uncertain significance
rs767866540	19:51,170,052	G/A	—	uncertain significance
rs1436248656	19:51,170,068	C/G	—	uncertain significance
rs764141364	19:51,170,080	C/T	—	uncertain significance
rs186659978	19:51,170,084	C/A	—	benign
rs1256824602	19:51,170,098	T/C	—	uncertain significance
rs758391577	19:51,170,129	C/A	—	likely benign
rs375795144	19:51,170,147	G/A	—	benign
rs546061376	19:51,170,208	C/G	—	uncertain significance
rs868859667	19:51,170,209	C/T	—	uncertain significance
rs2513876576	19:51,170,235	G/A	—	uncertain significance
rs376770018	19:51,170,262	G/A	—	uncertain significance
rs2513876719	19:51,170,263	C/G	—	uncertain significance
rs1229197601	19:51,170,296	C/T	—	uncertain significance
rs200157365	19:51,170,315	C/T	—	likely benign
rs773365592	19:51,170,318	G/A	—	likely benign
rs1371205482	19:51,170,331	C/A	—	uncertain significance
rs144762908	19:51,170,370	G/T	—	benign
rs370080659	19:51,170,394	G/C	—	uncertain significance
rs1466227692	19:51,170,405	A/T	—	likely benign
rs2513877611	19:51,170,448	T/G	—	uncertain significance
rs1345355795	19:51,170,458	C/T	—	uncertain significance
rs1276014438	19:51,170,462	C/T	—	likely benign
rs376940566	19:51,170,527	C/T	—	likely benign
rs2513877877	19:51,170,548	C/T	—	uncertain significance
rs781533078	19:51,170,559	G/A	—	uncertain significance
rs145013267	19:51,170,567	G/A	—	benign

Showing 100 of 313 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.