CDKL5, cyclin dependent kinase like 5, 6792

N. diseases: 40; N. variants: 215
Disease: West Syndrome ×
Source: CURATED ×
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: rs1555952078
rs1555952078 		1.000 0.040 X 18604516 frameshift variant C/- delins
CUI: C0037769
Disease: West Syndrome
West Syndrome 		Nervous System Diseases 0.700 0
dbSNP: rs1555954752
rs1555954752 		1.000 0.040 X 18625224 frameshift variant -/CAGATCT delins
CUI: C0037769
Disease: West Syndrome
West Syndrome 		Nervous System Diseases 0.700 0
dbSNP: rs267608421
rs267608421 		0.925 0.160 X 18510855 splice donor variant G/T snv
CUI: C0037769
Disease: West Syndrome
West Syndrome 		Nervous System Diseases 0.700 0
dbSNP: rs267608618
rs267608618 		0.925 0.160 X 18604162 stop gained C/A;G snv
CUI: C0037769
Disease: West Syndrome
West Syndrome 		Nervous System Diseases 0.700 0