MYRF

myelin regulatory factor

Summary

This gene encodes a transcription factor that is required for central nervous system myelination and may regulate oligodendrocyte differentiation. It is thought to act by increasing the expression of genes that effect myelin production but may also directly promote myelin gene expression. Loss of a similar gene in mouse models results in severe demyelination. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2014]

Known Variants197 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs2956395	11:61,519,986	C/G	—	benign
rs113988039	11:61,520,098	G/A	regulatory region variant	—
rs198465	11:61,521,318	G/A	intron variant	—
rs756283532	11:61,522,889	G/C	—	likely benign
rs2286008	11:61,522,959	G/T	—	benign
rs543711028	11:61,525,567	G/C	—	—
rs572537530	11:61,529,656	G/C	—	—
rs61896137	11:61,530,500	A/G	intron variant	—
rs142545807	11:61,531,423	T/A	downstream gene variant	—
rs184521369	11:61,532,845	C/T	regulatory region variant	—
rs572050827	11:61,533,013	G/A	—	—
rs372575659	11:61,533,179	C/T	—	likely benign
rs76368319	11:61,533,366	G/A	downstream gene variant	—
rs1026813520	11:61,533,445	C/T	—	likely benign
rs202176179	11:61,533,449	G/A	—	benign
rs746693238	11:61,533,466	C/T	—	likely benign
rs775076363	11:61,533,522	G/A	—	conflicting classifications of pathogenicity
rs550964188	11:61,533,546	C/T	—	uncertain significance
rs2540856342	11:61,533,572	C/T	—	uncertain significance
rs571174505	11:61,533,573	C/T	—	uncertain significance
rs2540856517	11:61,533,584	A/C	—	likely benign
rs2066054571	11:61,533,594	A/T	—	uncertain significance
rs2135748046	11:61,533,601	C/G	—	uncertain significance
rs2135748075	11:61,533,608	A/G	—	likely pathogenic
rs767261805	11:61,533,618	G/A	—	uncertain significance
rs1391704383	11:61,533,680	C/T	—	uncertain significance
rs4963418	11:61,533,797	A/T	—	benign
rs198467	11:61,533,908	T/C	—	benign
rs181294507	11:61,534,291	C/T	downstream gene variant	—
rs198466	11:61,535,146	A/C	downstream gene variant	—
rs579383	11:61,536,583	G/A	—	benign
rs376809163	11:61,536,728	G/A	—	likely benign
rs369767896	11:61,536,735	A/G	—	likely benign
rs2066143314	11:61,536,758	C/G	—	uncertain significance
rs375670369	11:61,536,762	C/A	—	likely benign
rs2269928	11:61,537,529	G/T	—	benign
rs182542962	11:61,537,690	G/A	—	benign
rs1055552048	11:61,537,720	C/T	—	uncertain significance
rs779540387	11:61,537,732	C/T	—	uncertain significance
rs775177014	11:61,537,762	G/A	—	uncertain significance
rs903198733	11:61,537,777	C/T	—	uncertain significance
rs200370195	11:61,537,778	G/A	—	likely benign
rs1310547158	11:61,537,790	C/T	—	uncertain significance
rs758959850	11:61,537,824	G/C	—	likely benign
rs780504743	11:61,537,827	A/C	—	likely benign
rs2540894470	11:61,537,828	C/T	—	uncertain significance
rs748967830	11:61,537,837	C/T	—	uncertain significance
rs1165015760	11:61,537,864	C/T	—	uncertain significance
rs760787941	11:61,537,877	T/C	—	likely benign
rs753113267	11:61,537,905	C/A	—	pathogenic
rs1391241657	11:61,537,910	C/T	—	uncertain significance
rs139124174	11:61,537,958	C/T	—	benign
rs2540896611	11:61,537,967	T/C	—	uncertain significance
rs747961346	11:61,537,986	G/T	—	uncertain significance
rs549532247	11:61,538,951	C/A	regulatory region variant	—
rs144545667	11:61,539,015	C/G	—	uncertain significance
rs149803	11:61,539,020	C/G	—	benign
rs2540907041	11:61,539,021	A/C	—	uncertain significance
rs1166350788	11:61,539,028	T/A	—	uncertain significance
rs767908100	11:61,539,031	A/G	—	uncertain significance
rs1006237014	11:61,539,073	C/T	—	uncertain significance
rs139799827	11:61,539,079	C/T	—	likely benign
rs202068755	11:61,539,102	C/T	—	pathogenic
rs762351220	11:61,539,103	G/A	—	uncertain significance
rs143193141	11:61,539,136	C/T	—	likely benign
rs2540908348	11:61,539,142	C/A	—	uncertain significance
rs145789490	11:61,539,170	C/T	—	likely benign
rs773998662	11:61,539,175	C/T	—	uncertain significance
rs2135791768	11:61,539,196	G/A	—	likely pathogenic
rs781331156	11:61,539,313	A/C	—	uncertain significance
rs200349251	11:61,539,372	C/T	—	uncertain significance
rs2540911104	11:61,539,376	A/G	—	uncertain significance
rs1421001042	11:61,539,381	C/T	—	pathogenic
rs143211724	11:61,540,896	G/A	intron variant	—
rs369744463	11:61,541,429	G/C	—	likely benign
rs201745778	11:61,541,433	C/T	—	likely benign
rs754152606	11:61,541,435	C/T	—	likely benign
rs753205290	11:61,541,446	C/T	—	uncertain significance
rs2066302424	11:61,541,483	T/C	—	likely pathogenic
rs2540929716	11:61,541,494	G/A	—	uncertain significance
rs1565295267	11:61,541,523	C/A	—	likely pathogenic
rs2540929867	11:61,541,530	C/T	—	pathogenic
rs1565295286	11:61,541,531	A/G	—	pathogenic
rs1027079885	11:61,541,532	G/C	—	likely pathogenic
rs764556457	11:61,541,554	C/G	—	uncertain significance
rs2540930253	11:61,541,564	C/T	—	likely pathogenic
rs139188067	11:61,541,571	C/T	—	likely benign
rs966049658	11:61,541,572	G/A	—	uncertain significance
rs193921094	11:61,541,579	C/T	—	uncertain significance
rs747890413	11:61,541,584	G/A	—	uncertain significance
rs143059056	11:61,541,592	C/T	—	benign
rs1434682653	11:61,541,610	C/T	—	likely benign
rs1565295550	11:61,541,626	G/A	—	pathogenic
rs174528	11:61,543,499	C/T	—	benign
rs2540946224	11:61,543,567	C/G	—	uncertain significance
rs772535193	11:61,543,825	G/A	—	uncertain significance
rs2066382188	11:61,543,840	C/G	—	likely pathogenic
rs174529	11:61,543,961	T/C	—	benign
rs2540953552	11:61,544,268	G/A	—	uncertain significance
rs1382325914	11:61,544,274	G/T	—	uncertain significance

Showing 100 of 197 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.