NDUFS3

NADH:ubiquinone oxidoreductase core subunit S3

Summary

This gene encodes one of the iron-sulfur protein (IP) components of mitochondrial NADH:ubiquinone oxidoreductase (complex I). Mutations in this gene are associated with Leigh syndrome resulting from mitochondrial complex I deficiency.[provided by RefSeq, Apr 2009]

Known Variants133 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs4450136	11:47,600,352	A/G	—	benign
rs2280231	11:47,600,438	C/T	—	benign
rs750965789	11:47,600,603	T/C	—	uncertain significance
rs375483884	11:47,600,614	C/T	—	uncertain significance
rs950097510	11:47,600,629	C/G	—	uncertain significance
rs863224106	11:47,600,645	T/G	missense variant	pathogenic
rs2509726477	11:47,600,646	G/C	—	likely pathogenic
rs564072891	11:47,600,661	A/G	—	likely benign
rs369751345	11:47,600,664	C/T	—	likely benign
rs762277356	11:47,600,665	A/G	—	uncertain significance
rs1428851015	11:47,600,666	G/A	—	uncertain significance
rs765647250	11:47,600,668	C/G	—	uncertain significance
rs2509726621	11:47,600,669	T/C	—	uncertain significance
rs2509726623	11:47,600,670	G/A	—	likely benign
rs1297486508	11:47,600,674	T/C	—	uncertain significance
rs201457989	11:47,600,677	C/T	—	uncertain significance
rs751098229	11:47,600,680	G/A	—	uncertain significance
rs754491444	11:47,600,682	G/T	—	likely benign
rs2097266287	11:47,600,683	A/C	—	uncertain significance
rs1307527780	11:47,600,692	G/A	—	uncertain significance
rs752752534	11:47,600,708	G/A	—	likely benign
rs1424630879	11:47,600,714	A/C	—	uncertain significance
rs865890046	11:47,600,812	C/T	—	likely benign
rs756129709	11:47,600,816	T/C	—	likely benign
rs368907187	11:47,600,832	C/T	—	uncertain significance
rs371724676	11:47,600,834	C/T	—	likely benign
rs770306617	11:47,600,844	T/C	—	conflicting classifications of pathogenicity
rs148226917	11:47,600,852	G/T	—	likely benign
rs1373005182	11:47,600,871	G/A	—	uncertain significance
rs141187412	11:47,600,876	C/T	—	conflicting classifications of pathogenicity
rs2509727508	11:47,600,879	C/T	—	likely benign
rs1555198446	11:47,600,880	A/G	—	uncertain significance
rs1057076514	11:47,600,898	C/T	—	likely benign
rs2233352	11:47,601,062	T/C	—	likely benign
rs2233354	11:47,601,977	C/T	—	benign
rs2233355	11:47,602,049	C/T	—	likely benign
rs561407271	11:47,602,060	A/C	—	likely benign
rs1555198759	11:47,602,092	G/A	—	uncertain significance
rs2097268077	11:47,602,109	A/G	—	uncertain significance
rs1337534912	11:47,602,120	A/C	—	likely benign
rs889228369	11:47,602,128	G/T	—	uncertain significance
rs886048391	11:47,602,133	T/C	—	uncertain significance
rs886044765	11:47,602,147	C/G	—	uncertain significance
rs2509730362	11:47,602,166	C/T	—	uncertain significance
rs2509730368	11:47,602,172	C/A	—	uncertain significance
rs1461245501	11:47,602,183	T/C	—	likely benign
rs2097268371	11:47,602,376	C/G	—	likely benign
rs1456101942	11:47,602,378	T/C	—	likely benign
rs200420802	11:47,602,407	A/T	—	uncertain significance
rs771848158	11:47,602,410	G/C	—	uncertain significance
rs1555198835	11:47,602,424	C/T	—	uncertain significance
rs760089998	11:47,602,432	G/A	—	uncertain significance
rs760997877	11:47,602,449	T/C	—	likely benign
rs2509731155	11:47,602,452	C/A	—	uncertain significance
rs2509731264	11:47,602,495	T/G	—	uncertain significance
rs2509731289	11:47,602,502	C/T	—	uncertain significance
rs778409332	11:47,602,510	G/A	—	conflicting classifications of pathogenicity
rs150670630	11:47,602,519	C/T	—	uncertain significance
rs779903547	11:47,602,523	A/C	—	uncertain significance
rs746933225	11:47,602,528	C/T	—	uncertain significance
rs138867882	11:47,602,529	G/A	missense variant	pathogenic
rs2153795340	11:47,602,538	T/C	—	uncertain significance
rs2509731339	11:47,602,540	A/G	—	uncertain significance
rs886048392	11:47,602,541	G/T	—	uncertain significance
rs377579231	11:47,602,542	T/C	—	uncertain significance
rs2030166	11:47,602,729	C/T	—	benign
rs75422278	11:47,602,879	G/A	upstream gene variant	—
rs754995990	11:47,603,659	C/G	—	uncertain significance
rs368446373	11:47,603,664	C/T	—	uncertain significance
rs142248674	11:47,603,676	C/T	—	uncertain significance
rs372417584	11:47,603,677	G/A	—	uncertain significance
rs146407178	11:47,603,682	C/T	missense variant	uncertain significance
rs780005953	11:47,603,683	G/A	—	uncertain significance
rs28939714	11:47,603,692	C/T	missense variant	pathogenic
rs148331180	11:47,603,733	G/C	—	conflicting classifications of pathogenicity
rs1055717968	11:47,603,750	C/T	—	likely benign
rs144217602	11:47,603,754	T/C	—	uncertain significance
rs753606950	11:47,603,763	G/A	—	uncertain significance
rs368557574	11:47,603,775	C/T	—	likely benign
rs371375887	11:47,603,776	G/A	—	likely benign
rs2233358	11:47,603,827	C/T	—	likely benign
rs1741608079	11:47,603,890	C/G	—	likely benign
rs550477502	11:47,603,931	A/C	—	uncertain significance
rs750546500	11:47,603,933	C/A	—	uncertain significance
rs760510463	11:47,603,954	C/T	—	likely benign
rs778392027	11:47,603,972	C/T	—	likely benign
rs201081655	11:47,603,973	G/A	—	uncertain significance
rs77113494	11:47,603,984	T/C	—	conflicting classifications of pathogenicity
rs104894270	11:47,603,988	C/T	missense variant	pathogenic
rs771783839	11:47,603,989	G/A	—	uncertain significance
rs148748124	11:47,603,993	A/G	—	likely benign
rs761640106	11:47,604,014	T/C	—	likely benign
rs950704123	11:47,604,022	T/C	—	uncertain significance
rs765027279	11:47,604,025	G/A	—	uncertain significance
rs12798028	11:47,604,639	C/T	regulatory region variant	—
rs4147730	11:47,605,427	G/T	—	—
rs11039306	11:47,605,859	C/T	—	conflicting classifications of pathogenicity
rs369800649	11:47,605,869	C/T	—	uncertain significance
rs201626967	11:47,605,878	G/A	—	uncertain significance
rs762784963	11:47,605,880	T/C	—	likely benign

Showing 100 of 133 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.