NDUFS2

NADH:ubiquinone oxidoreductase core subunit S2

Summary

The protein encoded by this gene is a core subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (complex I). Mammalian mitochondrial complex I is composed of at least 43 different subunits, 7 of which are encoded by the mitochondrial genome, and the rest are the products of nuclear genes. The iron-sulfur protein fraction of complex I is made up of 7 subunits, including this gene product. Complex I catalyzes the NADH oxidation with concomitant ubiquinone reduction and proton ejection out of the mitochondria. Mutations in this gene are associated with mitochondrial complex I deficiency. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Oct 2009]

Known Variants194 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs61747494	1:161,167,981	C/T	missense variant	—
rs3813623	1:161,169,165	T/G	—	uncertain significance
rs189165754	1:161,169,207	G/A	—	uncertain significance
rs41270845	1:161,169,255	C/G	—	uncertain significance
rs563880124	1:161,169,414	G/A	—	—
rs115518404	1:161,171,736	A/G	—	likely benign
rs74124661	1:161,171,953	C/G	—	conflicting classifications of pathogenicity
rs563669084	1:161,171,958	G/A	—	uncertain significance
rs886045456	1:161,172,017	C/A	—	uncertain significance
rs886045457	1:161,172,020	G/A	—	uncertain significance
rs1357194571	1:161,172,131	T/C	—	likely benign
rs886045458	1:161,172,148	C/T	—	uncertain significance
rs964824584	1:161,172,150	T/A	—	likely benign
rs201554004	1:161,172,156	C/T	—	conflicting classifications of pathogenicity
rs774674149	1:161,172,191	G/A	—	uncertain significance
rs1665182221	1:161,172,200	G/A	—	uncertain significance
rs863224104	1:161,172,205	C/A	—	likely benign
rs139722814	1:161,172,214	C/A	—	likely benign
rs1328574022	1:161,172,228	T/G	—	uncertain significance
rs11538340	1:161,172,233	C/A	—	benign
rs780630195	1:161,172,234	C/T	—	uncertain significance
rs747845182	1:161,172,235	T/G	—	likely benign
rs1222190710	1:161,172,238	G/T	—	likely benign
rs772424969	1:161,172,245	G/C	—	conflicting classifications of pathogenicity
rs375549956	1:161,172,250	A/G	—	likely benign
rs745846016	1:161,172,255	C/G	—	uncertain significance
rs1057524063	1:161,172,278	C/T	—	likely benign
rs377100925	1:161,172,279	G/C	—	likely benign
rs766154232	1:161,172,281	G/A	—	likely benign
rs751472475	1:161,172,284	C/T	—	conflicting classifications of pathogenicity
rs114249790	1:161,172,513	G/C	—	likely benign
rs10908826	1:161,172,525	C/T	—	benign
rs776921827	1:161,173,210	T/G	—	uncertain significance
rs748230530	1:161,173,219	C/T	—	likely benign
rs1665273085	1:161,173,225	A/G	—	uncertain significance
rs886045459	1:161,173,229	G/A	—	uncertain significance
rs1352784505	1:161,173,234	C/T	—	uncertain significance
rs2102030615	1:161,173,245	G/A	—	likely benign
rs145578059	1:161,173,248	A/G	—	conflicting classifications of pathogenicity
rs2525671457	1:161,173,253	T/G	—	uncertain significance
rs2102030658	1:161,173,259	G/A	—	pathogenic
rs766135010	1:161,173,277	G/A	—	uncertain significance
rs2525671853	1:161,173,281	T/A	—	likely benign
rs774162709	1:161,173,289	A/G	—	conflicting classifications of pathogenicity
rs569128565	1:161,173,293	A/G	—	uncertain significance
rs1665278562	1:161,173,299	A/C	—	uncertain significance
rs2525672047	1:161,173,306	G/T	—	uncertain significance
rs755626092	1:161,173,308	C/T	—	likely benign
rs756914296	1:161,173,317	G/A	—	likely benign
rs2102030879	1:161,173,319	C/T	—	uncertain significance
rs755604585	1:161,173,336	G/A	—	likely benign
rs4656993	1:161,176,137	A/G	—	benign
rs750025366	1:161,176,189	C/T	—	likely benign
rs375650413	1:161,176,206	C/T	—	conflicting classifications of pathogenicity
rs2525685427	1:161,176,239	T/A	—	uncertain significance
rs760575668	1:161,176,261	A/G	—	likely benign
rs1553249704	1:161,176,262	G/A	—	likely pathogenic
rs370126952	1:161,176,267	G/A	—	likely benign
rs764795771	1:161,176,279	G/A	—	likely benign
rs374834794	1:161,176,281	G/C	—	uncertain significance
rs762996524	1:161,176,323	A/T	—	uncertain significance
rs754241926	1:161,176,331	A/G	—	conflicting classifications of pathogenicity
rs374883390	1:161,176,333	C/T	—	likely benign
rs2102037957	1:161,176,345	C/G	—	uncertain significance
rs1218305354	1:161,176,348	A/G	—	likely benign
rs910917366	1:161,176,370	T/C	—	uncertain significance
rs375651203	1:161,176,392	G/A	—	uncertain significance
rs180970484	1:161,176,399	G/A	—	likely benign
rs79181095	1:161,176,519	A/G	—	benign
rs3924264	1:161,178,684	C/T	—	benign
rs770508509	1:161,178,975	C/T	—	likely benign
rs762363138	1:161,178,999	A/G	—	uncertain significance
rs1665634865	1:161,179,001	C/T	—	uncertain significance
rs1306101550	1:161,179,002	G/A	—	uncertain significance
rs1665635198	1:161,179,011	A/G	—	uncertain significance
rs886043292	1:161,179,013	G/A	—	uncertain significance
rs1665635896	1:161,179,019	A/G	—	uncertain significance
rs1665636671	1:161,179,024	G/A	—	uncertain significance
rs140324736	1:161,179,030	C/T	—	uncertain significance
rs1665637127	1:161,179,031	G/A	—	pathogenic
rs997237404	1:161,179,061	T/C	—	likely benign
rs747894340	1:161,179,081	T/G	—	likely benign
rs76309459	1:161,179,114	C/T	—	conflicting classifications of pathogenicity
rs2525700889	1:161,179,253	T/C	—	likely benign
rs1292747569	1:161,179,263	G/A	—	likely benign
rs149789018	1:161,179,270	C/A	—	conflicting classifications of pathogenicity
rs1571614920	1:161,179,275	C/T	—	likely benign
rs1665654027	1:161,179,294	G/A	—	uncertain significance
rs41428447	1:161,179,298	G/A	—	conflicting classifications of pathogenicity
rs2525701437	1:161,179,325	A/G	—	likely benign
rs753554884	1:161,179,353	C/A	—	uncertain significance
rs138185030	1:161,179,358	C/T	—	conflicting classifications of pathogenicity
rs111808262	1:161,179,388	A/C	—	uncertain significance
rs1665658946	1:161,179,389	A/G	—	uncertain significance
rs202121443	1:161,179,635	C/T	—	conflicting classifications of pathogenicity
rs370433084	1:161,179,636	G/A	—	likely benign
rs2525703787	1:161,179,639	C/T	—	likely benign
rs751068903	1:161,179,648	T/C	—	uncertain significance
rs372463492	1:161,179,665	C/T	—	likely pathogenic
rs139019320	1:161,179,679	C/T	—	likely benign

Showing 100 of 194 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.