KMT2E, lysine methyltransferase 2E, 55904

N. diseases: 18; N. variants: 3
Disease: Muscle Hypertonia ×
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: rs1562927768
rs1562927768 		0.790 0.080 7 105101476 frameshift variant AAAGA/- delins
CUI: C0026826
Disease: Muscle Hypertonia
Muscle Hypertonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs1562931936
rs1562931936 		1.000 7 105107527 stop gained C/T snv
CUI: C0026826
Disease: Muscle Hypertonia
Muscle Hypertonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0