NDUFA11

NADH:ubiquinone oxidoreductase subunit A11

Summary

This gene encodes a subunit of the membrane-bound mitochondrial complex I. Complex I is composed of numerous subunits and functions as the NADH-ubiquinol reductase of the mitochondrial electron transport chain. Mutations in this gene are associated with severe mitochondrial complex I deficiency. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Oct 2010]

Known Variants123 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs77452913	19:5,892,684	C/T	—	benign
rs10432306	19:5,892,743	C/T	—	benign
rs1631032	19:5,892,770	C/T	—	benign
rs72989069	19:5,892,797	C/T	—	benign
rs77060799	19:5,892,823	G/C	—	likely benign
rs147644672	19:5,892,943	C/T	—	likely benign
rs1678868	19:5,892,954	T/C	—	benign
rs575960075	19:5,893,001	G/C	—	likely benign
rs188726115	19:5,893,056	G/A	—	uncertain significance
rs12980262	19:5,893,058	G/A	—	benign
rs2512862369	19:5,893,067	T/C	—	likely benign
rs563761118	19:5,893,098	A/T	—	likely benign
rs945368724	19:5,893,103	C/T	—	uncertain significance
rs1387979747	19:5,893,105	C/T	—	likely benign
rs765004425	19:5,893,121	G/A	—	uncertain significance
rs73920081	19:5,893,155	C/A	—	uncertain significance
rs192066309	19:5,893,221	C/G	—	likely benign
rs12982527	19:5,893,225	C/T	—	benign
rs1425327265	19:5,893,237	G/A	—	likely benign
rs765860115	19:5,893,253	G/A	—	uncertain significance
rs145558228	19:5,893,517	G/A	—	likely benign
rs28506987	19:5,893,625	A/T	—	benign
rs12974440	19:5,894,386	G/A	regulatory region variant	—
rs12974991	19:5,894,584	G/A	—	benign
rs12975210	19:5,894,645	G/C	—	benign
rs749166288	19:5,894,690	C/T	—	uncertain significance
rs191571307	19:5,894,694	G/C	—	uncertain significance
rs771648754	19:5,894,698	C/G	—	uncertain significance
rs151240763	19:5,894,770	C/T	—	uncertain significance
rs200470989	19:5,894,794	G/A	—	uncertain significance
rs2057597139	19:5,894,795	G/A	—	likely benign
rs975045862	19:5,894,805	A/G	—	uncertain significance
rs748679456	19:5,894,816	C/T	—	likely benign
rs989204591	19:5,894,817	G/A	—	uncertain significance
rs1318778118	19:5,894,832	A/G	—	uncertain significance
rs536499962	19:5,894,834	G/A	—	conflicting classifications of pathogenicity
rs202097097	19:5,894,845	C/T	—	uncertain significance
rs748589577	19:5,894,855	G/A	—	likely benign
rs770353684	19:5,894,856	T/A	—	uncertain significance
rs863224079	19:5,894,867	T/C	—	pathogenic
rs201202799	19:5,894,871	G/A	—	likely benign
rs7257835	19:5,895,195	C/T	—	benign
rs1057523813	19:5,896,454	G/T	—	likely benign
rs1030205832	19:5,896,455	G/A	—	likely benign
rs565009355	19:5,896,458	A/G	—	uncertain significance
rs775685917	19:5,896,461	C/T	—	likely benign
rs1057517914	19:5,896,463	C/T	—	pathogenic
rs199842745	19:5,896,466	C/A	splice region variant	pathogenic
rs773239975	19:5,896,467	G/A	—	uncertain significance
rs766133863	19:5,896,478	G/A	—	uncertain significance
rs909115934	19:5,896,485	C/A	—	uncertain significance
rs908949601	19:5,896,488	C/T	—	uncertain significance
rs941748424	19:5,896,489	G/A	—	conflicting classifications of pathogenicity
rs1428880391	19:5,896,491	C/T	—	uncertain significance
rs563276804	19:5,896,492	G/T	—	uncertain significance
rs371393774	19:5,896,501	G/A	—	likely benign
rs544224039	19:5,896,521	C/T	—	uncertain significance
rs746264059	19:5,896,522	G/T	—	uncertain significance
rs2512866371	19:5,896,528	C/G	—	uncertain significance
rs780379280	19:5,896,532	T/C	—	uncertain significance
rs865922410	19:5,896,533	C/T	—	uncertain significance
rs752783429	19:5,896,535	C/T	—	uncertain significance
rs768802877	19:5,896,538	A/G	—	uncertain significance
rs1345378776	19:5,896,543	G/A	—	uncertain significance
rs886054647	19:5,896,544	G/A	—	uncertain significance
rs560864775	19:5,896,545	C/T	—	uncertain significance
rs1417236235	19:5,896,547	C/T	—	uncertain significance
rs774174896	19:5,896,572	C/T	—	uncertain significance
rs759289907	19:5,896,573	G/A	—	likely benign
rs777802121	19:5,896,591	G/A	—	likely benign
rs753345776	19:5,896,598	A/G	—	likely benign
rs367890723	19:5,896,617	C/T	—	uncertain significance
rs185876325	19:5,896,666	A/G	—	likely benign
rs702064	19:5,896,766	C/T	—	benign
rs771753574	19:5,896,907	C/T	—	likely benign
rs560780638	19:5,896,908	G/A	—	likely benign
rs1197158690	19:5,896,959	G/A	—	likely benign
rs776094197	19:5,896,964	T/C	—	uncertain significance
rs138889960	19:5,896,968	C/T	—	conflicting classifications of pathogenicity
rs763543013	19:5,896,970	G/C	—	uncertain significance
rs2057614080	19:5,896,990	T/C	—	uncertain significance
rs564091469	19:5,897,000	C/T	—	uncertain significance
rs562935750	19:5,897,001	G/C	—	likely benign
rs2057614252	19:5,897,002	G/C	—	uncertain significance
rs199741006	19:5,897,012	C/T	—	likely benign
rs368032547	19:5,897,013	G/A	—	likely benign
rs758297555	19:5,897,022	G/A	—	likely benign
rs1420939673	19:5,897,025	G/C	—	likely benign
rs114489799	19:5,897,117	T/C	—	likely benign
rs186551503	19:5,898,756	A/C	upstream gene variant	—
rs35728843	19:5,903,479	C/G	—	benign
rs201657749	19:5,903,607	C/A	—	likely benign
rs1292083070	19:5,903,611	G/A	—	likely benign
rs1348957889	19:5,903,618	C/T	—	pathogenic
rs1057524865	19:5,903,622	C/T	—	pathogenic
rs540702143	19:5,903,635	C/A	—	uncertain significance
rs748026968	19:5,903,655	G/A	—	likely pathogenic
rs1192917919	19:5,903,656	C/A	—	uncertain significance
rs143941062	19:5,903,661	C/T	—	uncertain significance
rs575038796	19:5,903,666	G/A	—	likely benign

Showing 100 of 123 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.