CDKL5, cyclin dependent kinase like 5, 6792

N. diseases: 224; N. variants: 221
Disease: Epileptic drop attack ×
Source: ALL
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: rs1555955296
rs1555955296 		0.742 0.320 X 18628716 stop gained C/T snv
CUI: C0270846
Disease: Epileptic drop attack
Epileptic drop attack 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0