IBA57

iron-sulfur cluster assembly factor IBA57

Summary

The protein encoded by this gene localizes to the mitochondrion and is part of the iron-sulfur cluster assembly pathway. The encoded protein functions late in the biosynthesis of mitochondrial 4Fe-4S proteins. Defects in this gene have been associated with autosomal recessive spastic paraplegia-74 and with multiple mitochondrial dysfunctions syndrome-3. Two transcript variants encoding different isoforms have been found for this gene. The smaller isoform is not likely to be localized to the mitochondrion since it lacks the amino-terminal transit peptide. [provided by RefSeq, Jul 2015]

Known Variants212 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs74142616	1:228,353,138	T/C	—	likely benign
rs573498765	1:228,353,291	G/A	—	likely benign
rs766551822	1:228,353,508	C/G	—	uncertain significance
rs1189542525	1:228,353,509	T/G	—	likely benign
rs2034838926	1:228,353,524	A/G	—	likely benign
rs199781237	1:228,353,528	C/T	—	conflicting classifications of pathogenicity
rs765179856	1:228,353,540	G/A	—	uncertain significance
rs2034839548	1:228,353,543	G/T	—	uncertain significance
rs752452894	1:228,353,544	C/T	—	likely benign
rs1396729994	1:228,353,547	C/T	—	likely benign
rs2034839816	1:228,353,548	A/T	—	uncertain significance
rs779986558	1:228,353,550	T/A	—	likely benign
rs2034840072	1:228,353,556	G/A	—	likely benign
rs1465382275	1:228,353,571	C/T	—	likely benign
rs1338054165	1:228,353,578	T/A	—	uncertain significance
rs1324631781	1:228,353,596	C/A	—	uncertain significance
rs1263563131	1:228,353,599	A/G	—	uncertain significance
rs756821584	1:228,353,601	G/A	—	likely benign
rs951070079	1:228,353,602	T/G	—	uncertain significance
rs2034841698	1:228,353,606	G/A	—	uncertain significance
rs780697842	1:228,353,611	G/A	—	uncertain significance
rs2527900065	1:228,353,617	A/C	—	uncertain significance
rs984974466	1:228,353,621	C/T	—	conflicting classifications of pathogenicity
rs933445077	1:228,353,626	A/G	—	uncertain significance
rs1051788506	1:228,353,631	T/C	—	likely benign
rs769076384	1:228,353,633	G/A	—	uncertain significance
rs1166276688	1:228,353,638	G/A	—	uncertain significance
rs55873785	1:228,353,651	G/C	—	benign
rs1037373507	1:228,353,655	G/C	—	likely benign
rs1419333963	1:228,353,660	G/A	—	pathogenic
rs759608255	1:228,353,662	G/C	—	uncertain significance
rs1303618851	1:228,353,664	C/G	—	likely benign
rs765132163	1:228,353,667	C/A	stop gained	pathogenic
rs1571913232	1:228,353,673	G/A	—	likely benign
rs1432589548	1:228,353,674	C/T	—	likely benign
rs762720562	1:228,353,679	C/T	—	likely benign
rs1035428169	1:228,353,684	G/A	—	no classification for the single variant
rs756911621	1:228,353,686	A/G	—	uncertain significance
rs955717600	1:228,353,689	C/G	—	uncertain significance
rs2527900489	1:228,353,690	T/C	—	uncertain significance
rs755628436	1:228,353,707	C/A	—	uncertain significance
rs988464666	1:228,353,709	C/T	—	likely benign
rs779330254	1:228,353,712	C/T	—	likely benign
rs934566495	1:228,353,718	G/C	—	likely benign
rs376235022	1:228,353,721	C/T	—	likely benign
rs778284446	1:228,353,723	T/C	—	uncertain significance
rs1457066756	1:228,353,725	C/T	—	likely benign
rs199589485	1:228,353,727	G/C	—	likely benign
rs2527900743	1:228,353,729	T/C	—	uncertain significance
rs1420144150	1:228,353,732	G/C	—	uncertain significance
rs1168294957	1:228,353,744	A/G	—	uncertain significance
rs1022779300	1:228,353,749	C/G	—	uncertain significance
rs2527900879	1:228,353,762	G/C	—	uncertain significance
rs769910848	1:228,353,763	T/A	—	uncertain significance
rs1026408197	1:228,353,776	G/A	—	uncertain significance
rs1186238890	1:228,353,779	G/A	—	uncertain significance
rs13375853	1:228,353,781	C/G	—	likely benign
rs1191467500	1:228,353,783	C/T	—	uncertain significance
rs940700561	1:228,353,786	C/T	—	uncertain significance
rs539907686	1:228,353,789	C/G	—	uncertain significance
rs750061256	1:228,353,796	C/G	—	likely benign
rs1276192566	1:228,353,802	C/T	—	likely benign
rs765926471	1:228,353,803	T/C	missense variant	pathogenic
rs12132960	1:228,353,815	C/T	—	likely benign
rs547119740	1:228,353,817	G/C	—	likely benign
rs753218907	1:228,353,821	G/C	—	uncertain significance
rs759005478	1:228,353,822	T/G	—	uncertain significance
rs778374267	1:228,353,824	C/T	—	pathogenic
rs936626275	1:228,353,827	G/T	—	likely pathogenic
rs1298056442	1:228,353,830	C/T	—	likely pathogenic
rs2034849093	1:228,353,832	G/A	—	likely benign
rs1053773776	1:228,353,833	A/T	missense variant	uncertain significance
rs914514776	1:228,353,836	C/T	—	uncertain significance
rs781627051	1:228,353,840	A/G	missense variant	uncertain significance
rs746086631	1:228,353,843	A/G	—	uncertain significance
rs775646159	1:228,353,852	T/A	—	pathogenic
rs1085307519	1:228,353,854	T/C	—	uncertain significance
rs376565647	1:228,353,856	C/T	—	likely benign
rs1250537283	1:228,353,859	G/A	—	likely pathogenic
rs1202432368	1:228,353,860	T/G	—	likely pathogenic
rs536036624	1:228,353,862	A/G	—	uncertain significance
rs370043210	1:228,353,867	G/A	—	likely benign
rs374199925	1:228,353,878	G/A	—	likely benign
rs12141488	1:228,362,213	C/G	—	benign
rs74931164	1:228,362,306	G/A	—	benign
rs116455781	1:228,362,364	G/A	—	likely benign
rs552805022	1:228,362,378	C/T	—	likely benign
rs368178420	1:228,362,379	C/T	—	likely benign
rs368007738	1:228,362,386	C/A	—	benign
rs771929217	1:228,362,393	G/C	—	conflicting classifications of pathogenicity
rs1339829600	1:228,362,397	C/T	—	pathogenic
rs1315886237	1:228,362,405	C/A	—	uncertain significance
rs2034979994	1:228,362,408	G/T	—	likely benign
rs1484238358	1:228,362,423	C/T	—	likely benign
rs2527918227	1:228,362,424	C/T	—	uncertain significance
rs773089660	1:228,362,427	C/T	—	likely benign
rs770665164	1:228,362,441	C/G	—	uncertain significance
rs1343479298	1:228,362,447	G/A	—	likely benign
rs759179543	1:228,362,450	G/A	—	likely benign
rs1359399017	1:228,362,453	C/A	—	likely benign

Showing 100 of 212 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.