SLC25A22

solute carrier family 25 member 22

Summary

This gene encodes a mitochondrial glutamate carrier. Mutations in this gene are associated with early infantile epileptic encephalopathy. Multiple alternatively spliced variants, encoding the same protein, have been identified.[provided by RefSeq, Jul 2010]

Known Variants472 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs529018067	11:790,484	A/T	—	uncertain significance
rs575292705	11:790,614	G/A	—	uncertain significance
rs1864462584	11:790,623	A/G	—	uncertain significance
rs191455128	11:790,638	G/A	—	uncertain significance
rs17156064	11:790,762	G/A	—	benign
rs768779780	11:790,831	G/C	—	uncertain significance
rs375049082	11:790,858	G/T	—	uncertain significance
rs886048690	11:790,874	G/A	—	uncertain significance
rs542204237	11:790,902	G/T	—	uncertain significance
rs1445247555	11:790,915	G/A	—	uncertain significance
rs543726213	11:790,975	A/G	—	uncertain significance
rs1344016618	11:790,978	C/T	—	uncertain significance
rs118051043	11:791,009	C/T	—	benign
rs886048691	11:791,070	A/T	—	uncertain significance
rs116673603	11:791,074	T/A	—	benign
rs886048692	11:791,105	G/A	—	uncertain significance
rs886048693	11:791,135	G/A	—	uncertain significance
rs971863478	11:791,137	C/T	—	uncertain significance
rs139397585	11:791,155	C/T	—	uncertain significance
rs544567754	11:791,162	C/T	—	uncertain significance
rs576938612	11:791,169	C/G	—	uncertain significance
rs114476401	11:791,203	A/G	—	benign
rs111723529	11:791,204	C/T	—	uncertain significance
rs375467519	11:791,222	C/G	—	uncertain significance
rs556969774	11:791,355	G/A	—	uncertain significance
rs886048694	11:791,405	T/C	—	uncertain significance
rs4963153	11:791,462	G/A	—	benign
rs112476979	11:791,479	G/A	—	benign
rs187161044	11:791,587	G/A	—	uncertain significance
rs551904948	11:791,694	G/C	—	uncertain significance
rs537403010	11:791,706	T/C	—	uncertain significance
rs771093127	11:791,744	C/T	—	uncertain significance
rs4963152	11:791,808	C/T	—	conflicting classifications of pathogenicity
rs752899555	11:791,876	G/A	—	uncertain significance
rs74994790	11:791,881	T/C	—	uncertain significance
rs796053237	11:791,895	G/T	—	likely benign
rs554507285	11:791,898	T/G	—	benign
rs1396699166	11:791,911	G/C	—	uncertain significance
rs774103118	11:791,920	C/T	—	uncertain significance
rs2494974314	11:791,921	C/G	—	uncertain significance
rs1357296463	11:791,922	T/C	—	uncertain significance
rs1864541527	11:791,928	T/C	—	uncertain significance
rs1864541757	11:791,932	G/A	—	uncertain significance
rs1554965239	11:791,939	C/A	—	likely benign
rs1179494187	11:791,942	C/T	—	likely benign
rs1405191766	11:791,947	G/A	—	likely benign
rs2494975528	11:791,948	G/A	—	likely benign
rs2494975567	11:791,949	G/A	—	uncertain significance
rs2494975599	11:791,951	C/T	—	likely benign
rs587781170	11:791,954	C/T	—	likely benign
rs760123308	11:791,955	G/A	—	uncertain significance
rs765908991	11:791,957	G/A	—	likely benign
rs2133697146	11:791,958	A/G	—	uncertain significance
rs139020729	11:791,960	G/A	—	likely benign
rs1023771172	11:791,961	C/T	—	uncertain significance
rs758596118	11:791,965	G/A	—	likely benign
rs1294742916	11:791,969	G/A	—	likely benign
rs756957992	11:791,978	C/T	—	likely benign
rs564026448	11:791,984	G/A	—	likely benign
rs1057522422	11:791,987	G/A	—	likely benign
rs867806623	11:791,988	C/A	—	uncertain significance
rs969554802	11:791,989	C/T	—	uncertain significance
rs7124179	11:791,990	G/A	—	conflicting classifications of pathogenicity
rs1170277254	11:791,996	G/T	—	likely benign
rs768252518	11:791,999	C/T	—	likely benign
rs1565034826	11:792,000	G/A	—	uncertain significance
rs543285265	11:792,002	G/A	—	conflicting classifications of pathogenicity
rs1554965292	11:792,004	T/C	—	uncertain significance
rs1445740400	11:792,005	G/A	—	likely benign
rs1864546889	11:792,007	C/G	—	uncertain significance
rs146300431	11:792,011	C/T	—	conflicting classifications of pathogenicity
rs183409730	11:792,012	G/A	—	uncertain significance
rs369729483	11:792,013	C/T	—	uncertain significance
rs1060502506	11:792,014	G/A	—	likely benign
rs776176541	11:792,015	C/T	—	uncertain significance
rs762897089	11:792,016	G/A	—	uncertain significance
rs2133697677	11:792,018	C/T	—	uncertain significance
rs794727007	11:792,019	A/G	—	uncertain significance
rs551917192	11:792,023	G/A	—	likely benign
rs767700596	11:792,025	C/T	—	uncertain significance
rs202218399	11:792,026	G/A	—	conflicting classifications of pathogenicity
rs759256797	11:792,034	G/A	—	likely benign
rs1429166947	11:792,038	G/A	—	likely benign
rs753804802	11:792,041	C/T	—	likely benign
rs1168502556	11:792,042	G/A	—	uncertain significance
rs2133697920	11:792,051	T/C	—	uncertain significance
rs187824231	11:792,053	G/A	—	conflicting classifications of pathogenicity
rs777614945	11:792,057	C/T	—	uncertain significance
rs567628237	11:792,058	G/A	—	uncertain significance
rs141931491	11:792,071	G/A	—	uncertain significance
rs1311947754	11:792,074	G/A	—	likely benign
rs776086632	11:792,076	G/T	—	likely benign
rs546478081	11:792,083	C/T	—	likely benign
rs572751087	11:792,084	G/A	—	likely benign
rs574960850	11:792,122	C/G	—	likely benign
rs780573606	11:792,123	C/T	—	likely benign
rs1259282620	11:792,124	G/A	—	likely benign
rs1262027027	11:792,125	C/G	—	likely benign
rs749684715	11:792,126	C/T	—	likely benign
rs201177114	11:792,127	G/A	—	likely benign

Showing 100 of 472 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.