KMT2E, lysine methyltransferase 2E, 55904

N. diseases: 18; N. variants: 3
Disease: Leukoencephalopathy ×
Source: CLINVAR ×
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1562931936
rs1562931936 		1.000 7 105107527 stop gained C/T snv
CUI: C0270612
Disease: Leukoencephalopathy
Leukoencephalopathy 		Nervous System Diseases 0.700 0