CDKL5 Proband Entry



Entry ID: cp480

Systematic name: c.2372A>C

Protein name: p.Gln791Pro

Alternate name(s): p.Q791P

Mutation type: missense

Domain: regulatory C-terminal

Pathogenicity class: benign variant

Gender: Male

Phenotype: Not Rett syndrome - developmental delay and infantile spasms

Other mutation:

X-inactivation results: Not applicable

Chromosomal abnormality: Not known

Method of testing: direct, Exons 2-21

Source of DNA: blood

Familial testing: No

Familial X-inactivation:

Control screening: No

dbSNP ID: rs35478150

Source: Directly submitted

Comments:

Entry last updated on: 2015-02-26 03:24:09

Similar entries in the proband database

cDNA name Protein name Phenotype Gender Reference Proband ID
c.2372A>C p.Gln791Pro Rett syndrome - not certain Female 15499549 Tao et al (2004) cp11
c.2372A>C p.Gln791Pro Rett syndrome - not certain Female 15499549 Tao et al (2004) cp12
c.2372A>C p.Gln791Pro Rett syndrome - not certain Female 15499549 Tao et al (2004) cp13
c.2372A>C p.Gln791Pro Rett syndrome - not certain Female 15499549 Tao et al (2004) cp14
c.2372A>C p.Gln791Pro Rett syndrome - not certain Female 15499549 Tao et al (2004) cp15
c.2372A>C p.Gln791Pro Not known - normal control Unknown 15499549 Tao et al (2004) cp16
c.2372A>C p.Gln791Pro Not known - normal control Unknown 15499549 Tao et al (2004) cp17
c.2372A>C p.Gln791Pro Not known - normal control Unknown 15499549 Tao et al (2004) cp18
c.2372A>C p.Gln791Pro Not Rett syndrome - severe encephalopathy and early-onset seizures Male 19564592 Fichou et al (2009) cp105
c.2372A>C p.Gln791Pro Not known Unknown 19241098 Russo et al (2009) cp113
c.2372A>C p.Gln791Pro Not known Unknown 19241098 Russo et al (2009) cp114
c.2372A>C p.Gln791Pro Not known Unknown 19241098 Russo et al (2009) cp115
c.2372A>C p.Gln791Pro Not known Unknown 19241098 Russo et al (2009) cp116
c.2372A>C p.Gln791Pro Not known Unknown 19241098 Russo et al (2009) cp117
c.2372A>C p.Gln791Pro Not known Unknown 19241098 Russo et al (2009) cp118
c.2372A>C p.Gln791Pro Not known Unknown 19241098 Russo et al (2009) cp119
c.2372A>C p.Gln791Pro Not known Unknown 19241098 Russo et al (2009) cp120
c.2372A>C p.Gln791Pro Not known Unknown 19241098 Russo et al (2009) cp121
c.2372A>C p.Gln791Pro Not known Unknown 19241098 Russo et al (2009) cp122
c.2372A>C p.Gln791Pro Not known Unknown 19241098 Russo et al (2009) cp123
c.2372A>C p.Gln791Pro Not Rett syndrome - West syndrome Male 20397747 White et al (2010) cp147
c.2372A>C p.Gln791Pro Not Rett syndrome - West syndrome Male 20397747 White et al (2010) cp148
c.2372A>C p.Gln791Pro Not Rett syndrome - West syndrome Male 20397747 White et al (2010) cp149
c.2372A>C p.Gln791Pro Rett syndrome - not certain Female 20397747 White et al (2010) cp150
c.2372A>C p.Gln791Pro Rett syndrome - not certain Female 20397747 White et al (2010) cp151
c.2372A>C p.Gln791Pro Rett syndrome - not certain Female 20397747 White et al (2010) cp152
c.2372A>C p.Gln791Pro Rett syndrome - not certain Female 20397747 White et al (2010) cp153
c.2372A>C p.Gln791Pro Rett syndrome - not certain Female 20397747 White et al (2010) cp154
c.2372A>C p.Gln791Pro Rett syndrome - not certain Female 20397747 White et al (2010) cp155
c.2372A>C p.Gln791Pro Rett syndrome - not certain Female 20397747 White et al (2010) cp156
c.2372A>C p.Gln791Pro Rett syndrome - not certain Female 20397747 White et al (2010) cp157
c.2372A>C p.Gln791Pro Rett syndrome - not certain Female 20397747 White et al (2010) cp158
c.2372A>C p.Gln791Pro Rett syndrome - not certain Female 20397747 White et al (2010) cp159
c.2372A>C p.Gln791Pro Rett syndrome - not certain Female 20397747 White et al (2010) cp160
c.2372A>C p.Gln791Pro Rett syndrome - not certain Female 20397747 White et al (2010) cp161
c.2372A>C p.Gln791Pro Rett syndrome - not certain Female 20397747 White et al (2010) cp162
c.2372A>C p.Gln791Pro Rett syndrome - not certain Female 20397747 White et al (2010) cp163
c.2372A>C p.Gln791Pro Rett syndrome - not certain Female 20397747 White et al (2010) cp164
c.2372A>C p.Gln791Pro Not Rett syndrome - epileptic encephalopathy Female 20397747 White et al (2010) cp165
c.2372A>C p.Gln791Pro Not known - unaffected family member Male 20397747 White et al (2010) cp166
c.2372A>C p.Gln791Pro Not Rett syndrome - autism spectrum disorder or schizophrenia Unknown 20479760 Piton et al (2011) cp235
c.2372A>C p.Gln791Pro Not Rett syndrome - autism spectrum disorder or schizophrenia Unknown 20479760 Piton et al (2011) cp236
c.2372A>C p.Gln791Pro Not Rett syndrome - autism spectrum disorder or schizophrenia Unknown 20479760 Piton et al (2011) cp237
c.2372A>C p.Gln791Pro Not Rett syndrome - autism spectrum disorder or schizophrenia Unknown 20479760 Piton et al (2011) cp238
c.2372A>C p.Gln791Pro Not Rett syndrome - autism spectrum disorder or schizophrenia Unknown 20479760 Piton et al (2011) cp239
c.2372A>C p.Gln791Pro Not Rett syndrome - autism spectrum disorder or schizophrenia Unknown 20479760 Piton et al (2011) cp240
c.2372A>C p.Gln791Pro Not Rett syndrome - autism spectrum disorder or schizophrenia Unknown 20479760 Piton et al (2011) cp241
c.2372A>C p.Gln791Pro Not Rett syndrome - autism spectrum disorder or schizophrenia Unknown 20479760 Piton et al (2011) cp242
c.2372A>C p.Gln791Pro Not Rett syndrome - autism spectrum disorder or schizophrenia Unknown 20479760 Piton et al (2011) cp243
c.2372A>C p.Gln791Pro Not Rett syndrome - autism spectrum disorder or schizophrenia Unknown 20479760 Piton et al (2011) cp244
c.2372A>C p.Gln791Pro Not Rett syndrome - autism spectrum disorder or schizophrenia Unknown 20479760 Piton et al (2011) cp245
c.2372A>C p.Gln791Pro Not Rett syndrome - autism spectrum disorder or schizophrenia Unknown 20479760 Piton et al (2011) cp246
c.2372A>C p.Gln791Pro Not Rett syndrome - autism spectrum disorder or schizophrenia Unknown 20479760 Piton et al (2011) cp247
c.2372A>C p.Gln791Pro Not Rett syndrome - autism spectrum disorder or schizophrenia Unknown 20479760 Piton et al (2011) cp248
c.2372A>C p.Gln791Pro Not Rett syndrome - autism spectrum disorder or schizophrenia Unknown 20479760 Piton et al (2011) cp249
c.2372A>C p.Gln791Pro Not Rett syndrome - autism spectrum disorder or schizophrenia Unknown 20479760 Piton et al (2011) cp250
c.2372A>C p.Gln791Pro Not Rett syndrome - autism spectrum disorder or schizophrenia Unknown 20479760 Piton et al (2011) cp251
c.2372A>C p.Gln791Pro Not Rett syndrome - autism spectrum disorder or schizophrenia Unknown 20479760 Piton et al (2011) cp252
c.2372A>C p.Gln791Pro Not Rett syndrome - autism spectrum disorder or schizophrenia Unknown 20479760 Piton et al (2011) cp253
c.2372A>C p.Gln791Pro Rett syndrome - not certain Female 21160487 Hadzsiev et al (2011) cp271
c.2372A>C p.Gln791Pro Rett syndrome - not certain Female 21160487 Hadzsiev et al (2011) cp272
c.2372A>C p.Gln791Pro Rett syndrome - not certain Female 21160487 Hadzsiev et al (2011) cp273
c.2372A>C p.Gln791Pro Rett syndrome - not certain Female 21160487 Hadzsiev et al (2011) cp274
c.2372A>C p.Gln791Pro Rett syndrome - not certain Female 21160487 Hadzsiev et al (2011) cp275
c.2372A>C p.Gln791Pro Rett syndrome - not certain Female 21160487 Hadzsiev et al (2011) cp276
c.2372A>C p.Gln791Pro Rett syndrome - not certain Female 21160487 Hadzsiev et al (2011) cp277
c.2372A>C p.Gln791Pro Rett syndrome - not certain Female 21160487 Hadzsiev et al (2011) cp278
c.2372A>C p.Gln791Pro Rett syndrome - not certain Female Roche Martinez et al (2012) cp390
c.2372A>C p.Gln791Pro Rett syndrome - not certain Female Roche Martinez et al (2012) cp391
c.2372A>C p.Gln791Pro Rett syndrome - not certain Female Roche Martinez et al (2012) cp392
c.2372A>C p.Gln791Pro Not known - unaffected family member Female Roche Martinez et al (2012) cp393
c.2372A>C p.Gln791Pro Not known - unaffected family member Female Roche Martinez et al (2012) cp394
c.2372A>C p.Gln791Pro Not known - unaffected family member Female Roche Martinez et al (2012) cp395
c.2372A>C p.Gln791Pro Rett syndrome - atypical Female 23242510 Das et al (2013) cp440
c.2372A>C p.Gln791Pro Not Rett syndrome - early onset refractory epileptic encephalopathy Male Directly submitted cp476
c.2372A>C p.Gln791Pro Not Rett syndrome - severe mental retardation and autism Female Directly submitted cp477
c.2372A>C p.Gln791Pro Not Rett syndrome - developmental delay and infantile spasms Female Directly submitted cp488
c.[2372A>C];[2372A>C] p.[Gln791Pro];[Gln791Pro] Rett syndrome - early-onset seizures Female Directly submitted cp494
c.2372A>C p.Gln791Pro Not Rett syndrome - epileptic encephalopathy Female 27187038 et al () cp507
c.2372A>C p.Gln791Pro Not Rett syndrome - epileptic encephalopathy Female 27187038 et al () cp508
c.2372A>C p.Gln791Pro Not Rett syndrome - epileptic encephalopathy Male 27187038 et al () cp509
c.2372A>C p.Gln791Pro Not Rett syndrome - epileptic encephalopathy Male 27187038 et al () cp510

Displaying a total number of 82 proband entries.