CDKL5, cyclin dependent kinase like 5, 6792

N. diseases: 224; N. variants: 221
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: rs1057518759
rs1057518759
1.000 0.040 X 18604394 frameshift variant -/GC delins
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
Nervous System Diseases 0.700 0
dbSNP: rs1057519542
rs1057519542
1.000 0.040 X 18604372 frameshift variant -/GACC delins
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
Nervous System Diseases 0.700 0
dbSNP: rs1569219844
rs1569219844
1.000 0.040 X 18604845 frameshift variant AG/- del
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
Nervous System Diseases 0.700 0
dbSNP: rs267608501
rs267608501
0.882 0.160 X 18587986 missense variant C/T snv
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
Nervous System Diseases 0.700 0
dbSNP: rs786204967
rs786204967
1.000 0.040 X 18604169 frameshift variant AG/- delins
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
Nervous System Diseases 0.700 0