NFU1

NFU1 iron-sulfur cluster scaffold

Summary

This gene encodes a protein that is localized to mitochondria and plays a critical role in iron-sulfur cluster biogenesis. The encoded protein assembles and transfers 4Fe-4S clusters to target apoproteins including succinate dehydrogenase and lipoic acid synthase. Mutations in this gene are a cause of multiple mitochondrial dysfunctions syndrome-1, and pseudogenes of this gene are located on the short arms of chromosomes 1 and 3. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]

Known Variants149 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs10170036	2:69,623,136	A/G	—	benign
rs774104725	2:69,623,275	C/T	—	uncertain significance
rs1396495424	2:69,623,410	C/T	—	uncertain significance
rs2466242957	2:69,623,423	C/T	—	uncertain significance
rs1672329270	2:69,623,430	C/G	—	likely benign
rs1006415808	2:69,627,492	A/T	—	uncertain significance
rs374693682	2:69,627,508	T/C	—	likely benign
rs561482249	2:69,627,514	C/T	—	conflicting classifications of pathogenicity
rs200732109	2:69,627,517	C/T	—	likely benign
rs777602937	2:69,627,518	G/A	—	uncertain significance
rs890733293	2:69,627,519	G/T	—	uncertain significance
rs377381866	2:69,627,540	T/C	missense variant	pathogenic
rs1272262379	2:69,627,580	G/C	—	uncertain significance
rs201634470	2:69,627,587	C/A	—	conflicting classifications of pathogenicity
rs374514431	2:69,627,594	C/A	missense variant	pathogenic
rs1672488191	2:69,627,635	T/C	—	uncertain significance
rs2104735490	2:69,627,651	C/T	—	likely pathogenic
rs1156891721	2:69,627,668	G/C	—	uncertain significance
rs1401831965	2:69,627,670	C/T	—	uncertain significance
rs1348517700	2:69,627,675	G/A	—	likely benign
rs750424685	2:69,627,686	A/G	—	likely benign
rs141467638	2:69,627,722	T/C	—	likely benign
rs187751209	2:69,627,896	G/A	—	likely benign
rs150086656	2:69,627,900	A/G	—	likely benign
rs10190412	2:69,627,919	G/A	—	benign
rs28843490	2:69,631,929	C/T	intron variant	—
rs775731328	2:69,633,143	G/A	—	likely benign
rs767405381	2:69,633,145	A/G	—	likely benign
rs750179976	2:69,633,147	C/A	—	likely benign
rs756085990	2:69,633,149	C/T	—	pathogenic
rs371601286	2:69,633,150	G/A	—	uncertain significance
rs1281276965	2:69,633,154	C/T	—	pathogenic
rs1354126704	2:69,633,155	G/A	—	pathogenic
rs368931176	2:69,633,171	C/T	—	likely benign
rs778531770	2:69,633,173	A/G	—	likely benign
rs2466302060	2:69,633,200	C/T	—	uncertain significance
rs757971255	2:69,633,202	T/C	—	uncertain significance
rs886056266	2:69,633,204	T/A	—	uncertain significance
rs1464338870	2:69,633,215	C/G	—	likely pathogenic
rs574370963	2:69,633,234	A/T	—	likely benign
rs6546513	2:69,633,382	A/T	—	benign
rs143571647	2:69,633,419	C/G	—	likely benign
rs72907055	2:69,633,488	G/C	—	likely benign
rs113742680	2:69,633,510	A/G	—	likely benign
rs74847504	2:69,639,612	A/T	—	—
rs13383272	2:69,639,911	G/A	intron variant	—
rs115205294	2:69,642,126	G/A	—	likely benign
rs114363313	2:69,642,136	G/T	—	likely benign
rs73934929	2:69,642,191	G/A	—	benign
rs2466348556	2:69,642,310	A/T	—	likely benign
rs917257642	2:69,642,371	A/C	—	uncertain significance
rs768949114	2:69,642,381	T/A	—	likely benign
rs12474866	2:69,642,390	A/G	—	benign
rs770896590	2:69,642,403	A/G	—	uncertain significance
rs769275443	2:69,642,428	T/C	—	uncertain significance
rs1235176737	2:69,642,430	T/C	—	uncertain significance
rs1673014101	2:69,642,435	T/C	—	likely benign
rs1673014175	2:69,642,438	A/G	—	likely benign
rs2466349899	2:69,642,439	C/T	—	likely benign
rs4328678	2:69,642,572	T/C	—	benign
rs7557646	2:69,642,615	G/A	—	benign
rs58300328	2:69,646,357	G/A	—	—
rs7605572	2:69,646,504	G/A	—	benign
rs114945138	2:69,646,541	G/A	—	benign
rs775249424	2:69,646,666	T/G	—	uncertain significance
rs1335827751	2:69,646,680	G/T	—	uncertain significance
rs756434076	2:69,646,707	C/A	—	uncertain significance
rs2466374710	2:69,646,715	T/G	—	likely benign
rs569145992	2:69,646,726	T/G	—	likely benign
rs1158018884	2:69,646,727	A/G	—	likely benign
rs755494964	2:69,646,730	T/G	—	uncertain significance
rs371546359	2:69,646,738	T/A	splice region variant	pathogenic
rs1001185238	2:69,646,740	C/A	—	likely benign
rs769749096	2:69,646,754	A/C	—	likely benign
rs141033711	2:69,646,755	T/C	—	likely benign
rs4404323	2:69,646,950	C/T	—	benign
rs77406509	2:69,647,013	A/C	—	likely benign
rs60750166	2:69,650,406	G/A	—	likely benign
rs67662551	2:69,650,445	T/A	—	benign
rs11892371	2:69,650,527	C/T	—	benign
rs559190059	2:69,650,711	T/C	—	conflicting classifications of pathogenicity
rs2104792930	2:69,650,715	T/C	—	uncertain significance
rs201828730	2:69,650,716	A/G	—	likely benign
rs139171264	2:69,650,717	G/C	—	uncertain significance
rs1279585557	2:69,650,718	C/G	—	uncertain significance
rs1212890278	2:69,650,726	G/C	—	uncertain significance
rs774308958	2:69,650,729	C/T	—	uncertain significance
rs74637005	2:69,650,730	A/G	—	benign
rs1673339978	2:69,650,733	A/G	—	uncertain significance
rs1673342171	2:69,650,776	A/T	—	likely benign
rs2466398835	2:69,650,809	T/C	—	likely benign
rs1190118425	2:69,650,810	G/C	—	uncertain significance
rs924057225	2:69,650,814	T/G	—	uncertain significance
rs1673344140	2:69,650,817	G/C	—	uncertain significance
rs181762580	2:69,650,862	A/C	—	conflicting classifications of pathogenicity
rs77818193	2:69,650,977	G/A	—	benign
rs557647815	2:69,651,110	G/C	—	likely benign
rs752419061	2:69,659,024	G/A	—	likely benign
rs199927640	2:69,659,026	A/T	—	conflicting classifications of pathogenicity
rs777633945	2:69,659,031	T/C	—	uncertain significance

Showing 100 of 149 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.