NDUFA9

NADH:ubiquinone oxidoreductase subunit A9

Summary

The encoded protein is a subunit of the hydrophobic protein fraction of the NADH:ubiquinone oxidoreductase (complex I), the first enzyme complex in the electron transport chain located in the inner mitochondrial membrane. A pseudogene has been identified on chromosome 12. [provided by RefSeq, May 2010]

Known Variants190 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs714621	12:4,758,188	C/G	—	benign
rs201653293	12:4,758,299	G/A	—	uncertain significance
rs756216768	12:4,758,300	C/T	—	uncertain significance
rs777895420	12:4,758,304	C/T	—	likely benign
rs35155742	12:4,758,305	G/C	—	benign
rs771109850	12:4,758,306	C/T	—	likely benign
rs999842443	12:4,758,311	T/G	—	uncertain significance
rs1403236140	12:4,758,314	C/T	—	uncertain significance
rs1318411878	12:4,758,319	T/C	—	likely benign
rs780895352	12:4,758,323	C/T	—	conflicting classifications of pathogenicity
rs2137457763	12:4,758,347	T/C	—	uncertain significance
rs113630331	12:4,763,157	A/G	—	benign
rs80097844	12:4,763,197	G/C	—	likely benign
rs75606091	12:4,763,208	A/G	—	likely benign
rs2302247	12:4,763,349	T/C	—	benign
rs2302246	12:4,763,400	G/C	—	benign
rs61909964	12:4,763,404	G/C	—	benign
rs769578248	12:4,763,458	G/T	—	uncertain significance
rs148447690	12:4,763,466	A/G	—	uncertain significance
rs1194127380	12:4,763,476	T/C	—	uncertain significance
rs767821094	12:4,763,495	C/T	—	likely benign
rs529503724	12:4,763,496	G/A	—	uncertain significance
rs2498067975	12:4,763,502	C/A	—	uncertain significance
rs1591542059	12:4,763,530	T/C	—	uncertain significance
rs2137462111	12:4,763,536	A/G	—	uncertain significance
rs781211782	12:4,763,542	A/G	—	uncertain significance
rs145275641	12:4,763,550	C/T	—	uncertain significance
rs375524647	12:4,763,551	G/A	—	uncertain significance
rs150945569	12:4,763,559	G/A	—	uncertain significance
rs1591542079	12:4,763,566	G/C	—	uncertain significance
rs200951099	12:4,763,575	C/T	—	benign
rs2498068313	12:4,763,577	A/G	—	uncertain significance
rs1165725432	12:4,763,578	C/T	—	uncertain significance
rs863224087	12:4,763,590	C/T	—	uncertain significance
rs531865660	12:4,763,593	C/T	—	uncertain significance
rs758574474	12:4,763,607	C/T	—	conflicting classifications of pathogenicity
rs368824479	12:4,763,613	G/A	—	uncertain significance
rs2498068559	12:4,763,625	C/T	—	uncertain significance
rs960949361	12:4,763,627	T/A	—	likely benign
rs71579252	12:4,763,907	A/G	—	likely benign
rs767462328	12:4,763,993	C/T	—	uncertain significance
rs35263902	12:4,763,994	G/T	missense variant	uncertain significance
rs1442080888	12:4,763,996	A/G	—	uncertain significance
rs1565564733	12:4,764,021	A/C	—	uncertain significance
rs71579253	12:4,764,023	C/T	—	uncertain significance
rs778270687	12:4,764,028	T/C	—	likely benign
rs1401024490	12:4,764,036	A/G	—	uncertain significance
rs2498069574	12:4,764,037	T/A	—	likely pathogenic
rs771679812	12:4,764,053	C/T	—	uncertain significance
rs146661759	12:4,764,059	A/G	—	uncertain significance
rs1394888431	12:4,764,072	G/A	—	uncertain significance
rs766530587	12:4,764,094	G/A	—	uncertain significance
rs4147672	12:4,764,137	G/A	—	benign
rs4147673	12:4,764,195	C/T	—	benign
rs12309713	12:4,766,763	C/T	—	benign
rs6489557	12:4,766,798	T/C	—	benign
rs112635332	12:4,766,843	G/A	—	benign
rs777978273	12:4,766,898	C/T	—	likely benign
rs772426441	12:4,766,923	G/A	—	uncertain significance
rs775920867	12:4,766,924	C/T	—	uncertain significance
rs148477287	12:4,766,925	G/T	—	benign
rs2137464531	12:4,766,930	A/G	—	uncertain significance
rs761839520	12:4,766,931	T/G	—	uncertain significance
rs765033754	12:4,766,936	A/T	—	uncertain significance
rs757972669	12:4,766,944	C/T	—	uncertain significance
rs749568258	12:4,766,960	A/C	—	uncertain significance
rs779495089	12:4,766,967	T/G	—	uncertain significance
rs1945799878	12:4,766,978	A/G	—	uncertain significance
rs760993624	12:4,766,989	C/T	—	pathogenic
rs2498074003	12:4,766,990	G/A	—	uncertain significance
rs768716729	12:4,766,992	G/C	—	uncertain significance
rs4147679	12:4,767,884	A/T	—	benign
rs4147680	12:4,767,898	A/G	—	benign
rs4147681	12:4,768,095	T/C	—	benign
rs4766268	12:4,768,103	G/A	—	benign
rs767021595	12:4,768,186	A/T	—	likely benign
rs4147682	12:4,768,193	A/T	—	benign
rs2498076616	12:4,768,268	T/C	—	likely benign
rs902398679	12:4,768,274	T/A	—	likely benign
rs773928227	12:4,768,289	T/C	—	likely benign
rs1378431701	12:4,768,290	G/A	—	uncertain significance
rs375583788	12:4,768,296	C/G	—	uncertain significance
rs767047775	12:4,768,299	C/A	—	uncertain significance
rs1945808732	12:4,768,301	G/C	—	likely benign
rs190837666	12:4,768,306	C/T	—	uncertain significance
rs2137465583	12:4,768,319	C/T	—	likely benign
rs781313916	12:4,768,331	T/C	—	likely benign
rs372776947	12:4,768,348	G/A	—	uncertain significance
rs7972657	12:4,768,354	A/C	—	benign
rs773014699	12:4,768,358	G/A	—	likely benign
rs774653317	12:4,768,361	C/T	—	likely benign
rs7958182	12:4,768,437	C/T	—	benign
rs4147683	12:4,768,504	C/T	—	benign
rs12318966	12:4,768,511	A/G	—	benign
rs7957498	12:4,768,577	G/A	—	benign
rs7972920	12:4,768,619	A/G	—	benign
rs11834553	12:4,768,635	C/G	—	benign
rs10849115	12:4,771,431	G/A	—	benign
rs2267548	12:4,771,456	G/A	—	benign
rs2267549	12:4,771,682	A/G	—	benign

Showing 100 of 190 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.