ELOVL5

ELOVL fatty acid elongase 5

Summary

This gene belongs to the ELO family. It is highly expressed in the adrenal gland and testis, and encodes a multi-pass membrane protein that is localized in the endoplasmic reticulum. This protein is involved in the elongation of long-chain polyunsaturated fatty acids. Mutations in this gene have been associated with spinocerebellar ataxia-38 (SCA38). Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2014]

Known Variants110 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs9382192	6:53,131,918	G/T	—	—
rs41273876	6:53,133,848	C/T	—	likely benign
rs146646780	6:53,133,954	C/T	—	conflicting classifications of pathogenicity
rs41273878	6:53,133,964	C/A	—	likely benign
rs1402328770	6:53,133,969	G/T	—	uncertain significance
rs767300070	6:53,133,983	G/A	—	uncertain significance
rs771957174	6:53,134,020	G/A	—	uncertain significance
rs775550239	6:53,134,022	T/C	—	uncertain significance
rs1765838165	6:53,134,035	C/T	—	uncertain significance
rs183203367	6:53,134,043	C/T	—	benign
rs558021756	6:53,134,045	G/A	—	likely benign
rs2533707498	6:53,134,046	G/A	—	uncertain significance
rs751031451	6:53,134,054	T/C	—	likely benign
rs8714	6:53,134,301	A/G	—	benign
rs2533711182	6:53,135,389	A/G	—	uncertain significance
rs1561860638	6:53,135,445	G/T	—	uncertain significance
rs41273880	6:53,135,449	T/C	—	conflicting classifications of pathogenicity
rs2533711341	6:53,135,453	A/G	—	uncertain significance
rs2533711348	6:53,135,455	C/A	—	uncertain significance
rs587777670	6:53,135,458	C/A	missense variant	pathogenic
rs200269657	6:53,135,475	C/T	—	likely benign
rs1765885881	6:53,135,477	G/A	—	uncertain significance
rs1219073486	6:53,135,484	G/A	—	likely benign
rs373489693	6:53,135,489	C/T	—	uncertain significance
rs200213620	6:53,135,507	T/C	—	uncertain significance
rs115953222	6:53,135,537	G/A	—	likely benign
rs2294861	6:53,136,516	C/T	intron variant	—
rs1293879702	6:53,138,037	T/C	—	uncertain significance
rs2533718376	6:53,138,053	G/C	—	uncertain significance
rs367553728	6:53,138,061	C/T	—	uncertain significance
rs761391551	6:53,138,062	G/A	—	uncertain significance
rs1201350893	6:53,138,071	G/A	—	uncertain significance
rs930059445	6:53,138,074	C/G	—	uncertain significance
rs1554134436	6:53,138,088	T/C	—	uncertain significance
rs2533718524	6:53,138,100	A/C	—	uncertain significance
rs2127566383	6:53,138,103	A/C	—	uncertain significance
rs2533718559	6:53,138,106	A/G	—	uncertain significance
rs754985930	6:53,138,107	C/T	—	uncertain significance
rs187353151	6:53,138,108	G/A	—	benign
rs9463895	6:53,138,260	A/G	—	benign
rs114577427	6:53,139,804	A/C	—	likely benign
rs767556502	6:53,139,873	G/A	—	likely benign
rs760519826	6:53,139,880	A/G	—	likely benign
rs1766062667	6:53,139,894	C/T	—	uncertain significance
rs2533724024	6:53,139,912	T/A	—	uncertain significance
rs201413361	6:53,139,954	C/T	—	uncertain significance
rs751539740	6:53,139,964	C/T	—	benign
rs561304706	6:53,140,002	A/G	—	uncertain significance
rs771753121	6:53,140,023	G/A	—	uncertain significance
rs371771658	6:53,140,033	G/A	—	likely benign
rs2533724502	6:53,140,050	C/T	—	uncertain significance
rs1269834528	6:53,140,052	C/T	—	uncertain significance
rs760722233	6:53,140,053	G/A	—	uncertain significance
rs558953131	6:53,140,059	T/G	—	uncertain significance
rs2533724554	6:53,140,064	G/A	—	likely benign
rs753581653	6:53,140,072	G/A	—	likely benign
rs2294862	6:53,140,161	G/A	—	benign
rs2294863	6:53,140,760	G/A	—	benign
rs2294864	6:53,140,928	T/A	—	benign
rs181243280	6:53,140,945	T/C	—	likely benign
rs201970689	6:53,140,965	A/G	—	benign
rs2533727472	6:53,140,981	A/T	—	uncertain significance
rs768475739	6:53,140,982	T/C	—	uncertain significance
rs185810477	6:53,140,991	C/G	—	uncertain significance
rs765124461	6:53,140,997	C/A	—	uncertain significance
rs773383271	6:53,140,998	G/A	—	likely benign
rs368923638	6:53,141,066	G/C	—	likely benign
rs199671506	6:53,141,073	C/A	—	likely benign
rs1354640428	6:53,141,074	C/T	—	likely benign
rs79258857	6:53,141,204	A/C	—	benign
rs142726098	6:53,151,397	T/C	intron variant	—
rs72938776	6:53,152,485	A/G	—	likely benign
rs6458913	6:53,152,642	G/A	—	benign
rs150583340	6:53,152,683	G/A	—	likely benign
rs1028445166	6:53,152,709	C/A	—	conflicting classifications of pathogenicity
rs139609375	6:53,152,711	G/C	—	likely benign
rs1005834650	6:53,152,715	G/C	—	uncertain significance
rs1028351566	6:53,152,721	C/T	—	uncertain significance
rs6907982	6:53,152,758	A/G	—	benign
rs3817960	6:53,152,845	T/G	—	benign
rs2294866	6:53,153,714	C/A	intron variant	—
rs2294870	6:53,156,464	A/C	—	benign
rs1766783949	6:53,156,585	T/A	—	uncertain significance
rs587777671	6:53,156,606	G/C	missense variant	pathogenic
rs1211605888	6:53,156,630	T/A	—	uncertain significance
rs537419614	6:53,156,635	C/T	—	uncertain significance
rs553124687	6:53,156,636	G/A	—	uncertain significance
rs2533772936	6:53,156,663	T/C	—	uncertain significance
rs754676551	6:53,156,671	G/T	—	uncertain significance
rs2533773091	6:53,156,688	T/C	—	likely benign
rs199577202	6:53,156,697	T/C	—	uncertain significance
rs2533773161	6:53,156,711	T/A	—	uncertain significance
rs148971820	6:53,156,723	T/A	—	uncertain significance
rs778790668	6:53,156,724	A/G	—	likely benign
rs777238691	6:53,156,772	A/T	—	likely benign
rs6905103	6:53,156,930	G/A	—	likely benign
rs2294857	6:53,159,090	G/T	—	benign
rs940411670	6:53,159,178	C/T	—	uncertain significance
rs766691434	6:53,159,211	T/C	—	benign
rs9474477	6:53,159,233	G/A	—	benign

Showing 100 of 110 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.