Gene: CDKL5 ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1555952078
rs1555952078
CDKL5
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1555954752
rs1555954752
CDKL5
AAGATCTC 0.700 GeneticVariation CLINVAR

dbSNP: rs267608421
rs267608421
CDKL5
T 0.700 GeneticVariation CLINVAR

dbSNP: rs267608618
rs267608618
CDKL5
A 0.700 GeneticVariation CLINVAR

dbSNP: rs267608472
rs267608472
CDKL5
0.010 GeneticVariation BEFREE In contrast, patients with mutations in the kinase domain (such as p.Arg59X, p.Arg134X, p.Arg178Trp/Pro/Gln, or c.145 + 2T > C) and frameshift mutations in the C-terminal region (such as c.2635_2636delCT) had a more severe phenotype with infantile spasms, refractory epileptic encephalopathy, absolute microcephaly, and inability to walk. 22678952

2012
dbSNP: rs267608493
rs267608493
CDKL5
0.010 GeneticVariation BEFREE In contrast, patients with mutations in the kinase domain (such as p.Arg59X, p.Arg134X, p.Arg178Trp/Pro/Gln, or c.145 + 2T > C) and frameshift mutations in the C-terminal region (such as c.2635_2636delCT) had a more severe phenotype with infantile spasms, refractory epileptic encephalopathy, absolute microcephaly, and inability to walk. 22678952

2012