MFF

mitochondrial fission factor

Summary

This is a nuclear gene encoding a protein that functions in mitochondrial and peroxisomal fission. The encoded protein recruits dynamin-1-like protein (DNM1L) to mitochondria. There are multiple pseudogenes for this gene on chromosomes 1, 5, and X. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2013]

Known Variants137 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs77737296	2:228,189,920	C/T	—	benign
rs28365988	2:228,189,985	C/A	—	benign
rs7562498	2:228,190,002	C/G	—	benign
rs145568471	2:228,190,044	C/A	—	benign
rs7576719	2:228,190,151	T/C	—	benign
rs7603414	2:228,192,288	C/G	—	benign
rs575997043	2:228,193,296	C/T	—	—
rs77362510	2:228,193,364	T/G	—	benign
rs997890059	2:228,193,496	T/A	—	likely benign
rs763555666	2:228,193,506	G/C	—	uncertain significance
rs559680360	2:228,194,454	G/A	—	likely benign
rs3211097	2:228,194,480	A/T	—	benign
rs3211098	2:228,194,481	G/T	—	benign
rs78872053	2:228,194,483	G/T	—	likely benign
rs1173382920	2:228,194,499	G/A	—	uncertain significance
rs1574886182	2:228,194,500	G/A	—	likely pathogenic
rs868706737	2:228,194,501	T/G	—	likely pathogenic
rs750961619	2:228,194,509	A/G	—	likely benign
rs374828223	2:228,194,513	T/G	—	likely benign
rs6706656	2:228,194,570	G/A	—	benign
rs34828267	2:228,194,653	C/T	—	benign
rs10193765	2:228,195,048	G/A	—	benign
rs112522494	2:228,195,051	G/A	—	benign
rs115539914	2:228,195,263	G/A	—	likely benign
rs1353379563	2:228,195,324	T/C	—	likely benign
rs754521898	2:228,195,398	G/A	—	uncertain significance
rs200132653	2:228,195,407	A/G	—	uncertain significance
rs369491046	2:228,195,408	C/T	—	likely benign
rs1453104891	2:228,195,450	C/A	—	likely benign
rs182099421	2:228,195,455	A/G	—	uncertain significance
rs1241384523	2:228,195,467	T/C	—	uncertain significance
rs149692814	2:228,195,473	C/T	—	likely benign
rs766707640	2:228,195,482	C/T	—	uncertain significance
rs397514615	2:228,195,493	C/T	stop gained	pathogenic
rs577531491	2:228,195,525	T/C	—	likely benign
rs2074516880	2:228,195,529	A/T	—	uncertain significance
rs138259047	2:228,195,537	A/C	—	uncertain significance
rs371619648	2:228,195,570	A/G	—	likely benign
rs201332912	2:228,195,578	T/C	—	likely benign
rs367676581	2:228,195,592	G/A	—	likely benign
rs77017294	2:228,195,763	C/T	—	benign
rs113141549	2:228,196,968	G/A	—	benign
rs1197530137	2:228,197,121	T/C	—	likely benign
rs1172124356	2:228,197,132	T/C	—	uncertain significance
rs1174550579	2:228,197,152	T/C	—	likely benign
rs1027457073	2:228,197,158	T/G	—	uncertain significance
rs370366430	2:228,197,165	C/T	—	uncertain significance
rs375098500	2:228,197,176	G/A	—	uncertain significance
rs778753054	2:228,197,179	C/T	—	uncertain significance
rs781439237	2:228,197,206	C/T	—	likely benign
rs925309145	2:228,197,214	G/A	—	likely benign
rs368093027	2:228,197,228	G/A	—	uncertain significance
rs200360134	2:228,197,237	C/T	—	uncertain significance
rs11557342	2:228,197,238	G/A	—	benign
rs1414317381	2:228,197,290	C/A	—	uncertain significance
rs4500938	2:228,197,368	A/G	—	benign
rs4444514	2:228,197,488	A/G	—	benign
rs73993959	2:228,197,590	G/T	—	benign
rs6754433	2:228,198,773	A/G	intron variant	—
rs4420693	2:228,204,929	C/T	—	benign
rs4442987	2:228,204,982	T/C	—	benign
rs2075318017	2:228,205,011	C/T	—	pathogenic
rs756803135	2:228,205,012	G/A	—	uncertain significance
rs1057522742	2:228,205,028	A/G	—	likely benign
rs140493973	2:228,205,039	G/A	—	likely benign
rs145143758	2:228,205,059	G/A	—	conflicting classifications of pathogenicity
rs201498602	2:228,205,062	C/T	—	uncertain significance
rs748723518	2:228,205,063	G/A	—	uncertain significance
rs775273565	2:228,205,112	A/G	—	likely benign
rs776864848	2:228,207,452	T/C	—	likely benign
rs1208966544	2:228,207,514	C/T	—	uncertain significance
rs758873739	2:228,207,515	G/A	—	likely benign
rs752060091	2:228,207,526	C/T	—	conflicting classifications of pathogenicity
rs1334838296	2:228,207,528	G/T	—	pathogenic
rs2470096391	2:228,207,532	A/G	—	uncertain significance
rs368130845	2:228,207,554	T/G	—	likely benign
rs6738078	2:228,207,625	G/A	—	benign
rs6740870	2:228,207,776	C/A	—	benign
rs914422265	2:228,211,925	T/C	—	likely benign
rs2470122590	2:228,211,929	C/T	—	likely benign
rs779535716	2:228,211,947	C/T	—	uncertain significance
rs2470122742	2:228,211,949	C/T	—	uncertain significance
rs775833193	2:228,211,985	A/T	—	uncertain significance
rs762289133	2:228,212,021	C/T	—	uncertain significance
rs1330458969	2:228,212,067	A/G	—	uncertain significance
rs1026661833	2:228,212,086	G/C	—	likely benign
rs1179323728	2:228,212,096	C/T	—	uncertain significance
rs770994655	2:228,212,097	G/A	—	uncertain significance
rs144276627	2:228,212,099	A/G	—	uncertain significance
rs369599652	2:228,212,114	C/T	—	likely benign
rs73997104	2:228,216,992	G/A	—	benign
rs552639632	2:228,217,213	G/A	—	likely benign
rs189061423	2:228,217,218	A/C	—	benign
rs199807950	2:228,217,240	C/T	—	uncertain significance
rs747421782	2:228,217,257	C/T	—	likely benign
rs140009845	2:228,217,260	C/A	—	likely benign
rs765713755	2:228,217,262	C/A	—	uncertain significance
rs2470153136	2:228,217,264	T/C	—	uncertain significance
rs763857831	2:228,217,271	C/G	—	uncertain significance
rs751237924	2:228,217,274	A/C	—	uncertain significance

Showing 100 of 137 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.