NDUFS7

NADH:ubiquinone oxidoreductase core subunit S7

Summary

This gene encodes a protein that is a subunit of one of the complexes that forms the mitochondrial respiratory chain. This protein is one of over 40 subunits found in complex I, the nicotinamide adenine dinucleotide (NADH):ubiquinone oxidoreductase. This complex functions in the transfer of electrons from NADH to the respiratory chain, and ubiquinone is believed to be the immediate electron acceptor for the enzyme. Mutations in this gene cause Leigh syndrome due to mitochondrial complex I deficiency, a severe neurological disorder that results in bilaterally symmetrical necrotic lesions in subcortical brain regions. [provided by RefSeq, Jul 2008]

Known Variants265 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs117758624	19:1,383,550	G/C	—	benign
rs115444924	19:1,383,561	C/T	—	likely benign
rs114400263	19:1,383,643	A/G	—	likely benign
rs3848638	19:1,383,649	G/T	—	benign
rs371032334	19:1,383,918	A/C	—	likely benign
rs958345124	19:1,383,920	G/A	—	likely benign
rs2144603471	19:1,383,925	G/C	—	uncertain significance
rs863224113	19:1,383,927	T/C	missense variant	pathogenic
rs775410920	19:1,383,930	C/T	—	uncertain significance
rs931199702	19:1,383,931	G/A	—	likely benign
rs982724042	19:1,383,934	G/A	—	likely benign
rs1268314487	19:1,383,942	G/C	—	likely pathogenic
rs776735273	19:1,383,947	C/T	—	uncertain significance
rs535652217	19:1,383,948	G/A	—	likely benign
rs2144603557	19:1,383,953	A/G	—	likely benign
rs765416485	19:1,383,955	C/T	—	likely benign
rs2082490690	19:1,383,956	G/A	—	likely benign
rs1262595786	19:1,383,957	G/A	—	likely benign
rs113443464	19:1,384,021	G/C	—	likely benign
rs11668291	19:1,384,246	T/C	—	likely benign
rs1568985256	19:1,386,643	C/G	—	likely pathogenic
rs189224273	19:1,386,685	G/A	intron variant	—
rs113090051	19:1,386,686	G/A	—	benign
rs4807914	19:1,386,715	C/G	—	benign
rs773391103	19:1,387,791	C/G	—	likely benign
rs763056833	19:1,387,793	C/T	—	likely benign
rs370648088	19:1,387,794	G/A	—	likely benign
rs2512203625	19:1,387,798	T/C	—	likely benign
rs2512203635	19:1,387,804	C/T	—	likely benign
rs1335401362	19:1,387,809	G/T	—	likely pathogenic
rs201222388	19:1,387,814	T/C	—	conflicting classifications of pathogenicity
rs145715870	19:1,387,817	C/T	—	likely benign
rs778260862	19:1,387,822	G/A	—	uncertain significance
rs938207820	19:1,387,823	C/G	—	likely benign
rs201112782	19:1,387,824	G/A	—	uncertain significance
rs200997964	19:1,387,825	G/A	—	uncertain significance
rs140143043	19:1,387,830	C/T	—	uncertain significance
rs373814004	19:1,387,831	G/A	—	uncertain significance
rs1175020698	19:1,387,832	G/T	—	likely benign
rs1193585808	19:1,387,838	T/G	—	uncertain significance
rs552179138	19:1,387,840	G/A	—	conflicting classifications of pathogenicity
rs202091684	19:1,387,844	G/T	—	likely benign
rs769894226	19:1,387,845	C/T	—	uncertain significance
rs763039384	19:1,387,856	T/G	—	likely benign
rs770928488	19:1,387,857	G/A	—	likely benign
rs774566128	19:1,387,860	T/C	—	likely benign
rs759817526	19:1,387,865	A/G	—	likely benign
rs371108813	19:1,387,866	G/C	—	likely benign
rs1448433255	19:1,387,917	G/T	—	benign
rs535799494	19:1,387,919	T/G	—	benign
rs572570145	19:1,387,926	T/G	—	benign
rs60896822	19:1,387,933	A/G	—	benign
rs7254913	19:1,388,320	G/A	—	benign
rs200121063	19:1,388,504	C/T	—	likely benign
rs562814009	19:1,388,505	G/A	—	likely benign
rs115835616	19:1,388,506	C/T	—	benign
rs543072293	19:1,388,507	G/A	—	likely benign
rs2512205221	19:1,388,515	T/G	—	likely benign
rs372999514	19:1,388,518	C/T	—	likely benign
rs775718887	19:1,388,519	G/A	—	conflicting classifications of pathogenicity
rs2082525102	19:1,388,523	G/A	—	likely pathogenic
rs2512205245	19:1,388,527	C/T	—	likely benign
rs2512205252	19:1,388,529	G/T	—	uncertain significance
rs972343810	19:1,388,530	C/T	—	likely benign
rs777194361	19:1,388,531	G/A	—	uncertain significance
rs1142530	19:1,388,538	C/T	missense variant	benign
rs374974809	19:1,388,543	G/C	—	uncertain significance
rs1209701377	19:1,388,545	G/A	—	likely benign
rs777495370	19:1,388,556	G/T	—	uncertain significance
rs138034508	19:1,388,560	C/T	—	benign
rs2512205352	19:1,388,564	C/T	—	pathogenic
rs772156112	19:1,388,569	C/T	—	likely benign
rs2512205389	19:1,388,572	G/A	—	likely benign
rs375442011	19:1,388,578	C/T	—	likely benign
rs1382579477	19:1,388,584	C/T	—	likely benign
rs112045351	19:1,388,598	G/A	—	uncertain significance
rs750011146	19:1,388,601	G/A	—	likely benign
rs1357413535	19:1,388,603	C/A	—	likely benign
rs550324102	19:1,388,604	C/T	—	likely benign
rs1263662238	19:1,388,609	G/A	—	likely benign
rs619693	19:1,388,812	C/A	—	likely benign
rs776145250	19:1,388,814	C/T	—	likely benign
rs1159818715	19:1,388,815	G/A	—	likely benign
rs201793033	19:1,388,817	G/C	—	likely benign
rs377418064	19:1,388,819	G/T	—	likely benign
rs1408098126	19:1,388,825	G/T	—	likely benign
rs2512206013	19:1,388,831	G/C	—	likely pathogenic
rs762772605	19:1,388,834	C/G	—	uncertain significance
rs766259287	19:1,388,839	C/T	—	uncertain significance
rs147710123	19:1,388,847	G/A	—	conflicting classifications of pathogenicity
rs11551666	19:1,388,855	C/G	—	likely benign
rs140236960	19:1,388,862	C/T	—	conflicting classifications of pathogenicity
rs757717527	19:1,388,863	G/A	—	conflicting classifications of pathogenicity
rs2512206155	19:1,388,866	G/A	—	uncertain significance
rs565395435	19:1,388,867	C/T	—	conflicting classifications of pathogenicity
rs747767440	19:1,388,876	C/T	—	uncertain significance
rs370831422	19:1,388,877	C/T	—	likely benign
rs772876915	19:1,388,884	C/T	—	uncertain significance
rs762680917	19:1,388,889	C/T	—	conflicting classifications of pathogenicity
rs774148682	19:1,388,898	G/A	—	likely benign

Showing 100 of 265 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.