SURF1

SURF1 cytochrome c oxidase assembly factor

Summary

This gene encodes a protein localized to the inner mitochondrial membrane and thought to be involved in the biogenesis of the cytochrome c oxidase complex. The protein is a member of the SURF1 family, which includes the related yeast protein SHY1 and rickettsial protein RP733. The gene is located in the surfeit gene cluster, a group of very tightly linked genes that do not share sequence similarity, where it shares a bidirectional promoter with SURF2 on the opposite strand. Defects in this gene are a cause of Leigh syndrome, a severe neurological disorder that is commonly associated with systemic cytochrome c oxidase deficiency. [provided by RefSeq, Jul 2008]

Known Variants486 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs484248	9:136,218,590	C/A	—	benign
rs4962133	9:136,218,650	A/G	—	benign
rs1836416878	9:136,218,675	G/A	—	uncertain significance
rs138050767	9:136,218,721	C/T	—	conflicting classifications of pathogenicity
rs2490612353	9:136,218,768	T/C	—	uncertain significance
rs781873188	9:136,218,771	C/G	—	likely benign
rs782746186	9:136,218,773	C/T	—	uncertain significance
rs76574453	9:136,218,774	A/G	—	likely benign
rs201822068	9:136,218,778	G/C	—	uncertain significance
rs782523650	9:136,218,780	T/G	—	likely benign
rs782620122	9:136,218,782	T/G	—	conflicting classifications of pathogenicity
rs369247238	9:136,218,787	C/A	—	uncertain significance
rs147312193	9:136,218,788	G/A	—	likely benign
rs2119079701	9:136,218,789	T/C	—	likely benign
rs145088629	9:136,218,792	G/C	—	uncertain significance
rs2119079745	9:136,218,804	C/T	—	pathogenic
rs373591762	9:136,218,806	A/C	—	uncertain significance
rs782131784	9:136,218,807	C/T	—	likely benign
rs200841752	9:136,218,808	A/T	—	uncertain significance
rs781968676	9:136,218,809	G/A	—	likely benign
rs1032493246	9:136,218,810	G/A	—	likely benign
rs2490612637	9:136,218,813	G/A	—	likely benign
rs2119079774	9:136,218,815	A/C	—	uncertain significance
rs956430151	9:136,218,816	T/C	—	likely benign
rs781902619	9:136,218,821	C/T	—	uncertain significance
rs2490612728	9:136,218,822	T/A	—	likely benign
rs139025632	9:136,218,824	C/T	—	uncertain significance
rs377667235	9:136,218,825	A/G	—	likely benign
rs782766438	9:136,218,826	G/C	—	uncertain significance
rs1272896177	9:136,218,829	A/C	—	uncertain significance
rs587758543	9:136,218,835	T/C	—	uncertain significance
rs782601312	9:136,218,837	C/T	—	pathogenic
rs375626121	9:136,218,841	G/A	—	likely benign
rs370520197	9:136,218,842	G/A	—	likely benign
rs1246542771	9:136,218,843	G/A	—	likely benign
rs1193882996	9:136,218,848	A/G	—	likely benign
rs139870012	9:136,218,850	A/G	—	benign
rs1836426509	9:136,218,851	G/C	—	likely benign
rs1295708464	9:136,218,852	C/G	—	likely benign
rs587692589	9:136,218,854	A/G	—	likely benign
rs1427282719	9:136,218,856	C/T	—	likely benign
rs2021976	9:136,218,889	G/A	—	benign
rs1836428263	9:136,218,897	A/G	—	likely benign
rs1254526352	9:136,218,898	G/C	—	likely benign
rs1254736539	9:136,218,899	G/A	—	likely benign
rs1272809745	9:136,218,900	G/A	—	likely benign
rs202237153	9:136,218,901	C/T	—	likely benign
rs375695890	9:136,218,902	C/T	—	likely benign
rs368685731	9:136,218,903	G/A	—	likely benign
rs1476103947	9:136,218,904	C/A	—	likely benign
rs1036443876	9:136,218,905	T/C	—	likely benign
rs1836428996	9:136,218,909	G/A	—	likely benign
rs587699821	9:136,218,913	C/T	—	conflicting classifications of pathogenicity
rs782609482	9:136,218,915	C/T	—	pathogenic
rs782192935	9:136,218,918	G/T	—	likely benign
rs782432087	9:136,218,921	C/T	—	likely benign
rs1836429651	9:136,218,922	A/G	—	uncertain significance
rs141561701	9:136,218,923	C/T	—	uncertain significance
rs372660779	9:136,218,924	G/A	—	likely benign
rs1050473947	9:136,218,926	T/G	—	uncertain significance
rs1836430239	9:136,218,927	G/A	—	likely benign
rs781967825	9:136,218,928	T/C	—	pathogenic
rs121918658	9:136,218,929	A/C	missense variant	pathogenic
rs782076866	9:136,218,932	G/A	—	pathogenic
rs1460328127	9:136,218,933	C/T	—	likely benign
rs1836430752	9:136,218,934	A/G	—	uncertain significance
rs782315978	9:136,218,935	G/A	—	likely benign
rs2490613584	9:136,218,937	T/C	—	uncertain significance
rs781924765	9:136,218,941	C/A	—	pathogenic
rs150726485	9:136,218,942	G/A	—	likely benign
rs781880723	9:136,218,945	C/G	—	uncertain significance
rs782120692	9:136,218,948	C/T	—	conflicting classifications of pathogenicity
rs782751238	9:136,218,949	A/G	—	uncertain significance
rs2490613691	9:136,218,950	G/A	—	likely benign
rs1409556842	9:136,218,951	A/G	—	likely benign
rs1456506504	9:136,218,953	T/A	—	uncertain significance
rs2490613726	9:136,218,954	A/G	—	likely benign
rs1416690474	9:136,218,959	T/C	—	uncertain significance
rs967783969	9:136,218,960	G/C	—	likely benign
rs2119080085	9:136,218,961	G/C	—	uncertain significance
rs1588688853	9:136,218,963	T/C	—	likely benign
rs782509657	9:136,218,970	C/T	—	likely pathogenic
rs139022243	9:136,218,973	A/G	—	uncertain significance
rs1245524857	9:136,218,974	T/C	—	uncertain significance
rs2490613858	9:136,218,976	G/C	—	uncertain significance
rs1053850536	9:136,218,977	G/A	—	pathogenic
rs782227552	9:136,218,978	T/C	—	likely benign
rs2490613891	9:136,218,980	C/T	—	pathogenic
rs782468508	9:136,218,984	A/G	—	likely benign
rs782579479	9:136,218,985	G/T	—	uncertain significance
rs1198344451	9:136,218,986	G/A	—	uncertain significance
rs782439723	9:136,218,987	G/C	—	likely benign
rs2490613958	9:136,218,990	T/C	—	likely benign
rs782022661	9:136,218,991	G/C	—	uncertain significance
rs2490614014	9:136,218,995	T/G	—	uncertain significance
rs1472150950	9:136,218,996	C/T	—	likely benign
rs1391748504	9:136,218,998	C/G	—	pathogenic
rs2490614044	9:136,219,000	G/C	—	likely pathogenic
rs1458022944	9:136,219,001	T/G	—	likely benign
rs1365293208	9:136,219,005	G/A	—	likely benign

Showing 100 of 486 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.