CDKL5 Proband Entry
Entry ID: cp120
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: Unknown
Phenotype: Not known
Other mutation:
X-inactivation results: Not known
Chromosomal abnormality: Not known
Method of testing: DHPLC, MECP2, CDKL5
Source of DNA: blood
Familial testing: No
Familial X-inactivation:
Control screening: No
dbSNP ID: rs35478150
Source: Russo, S., Marchi, M., Cogliati, F., Bonati, M.T., Pintaudi, M.,Veneselli, E., Saletti, V., Balestrini, M., Ben-Zeev, B., Larizza, L. (2009) Novel mutations in the CDKL5 gene, predicted effects and associated phenotypes. Neurogenetics 10:241-250. Pubmed ID: 19241098
Publication ID:
Comments:
Entry last updated on: 2018-06-05 13:45:42
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) | 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 | Male | Directly submitted | cp480 |
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 Zahorakova D et al (2016) | cp507 |
c.2372A>C | p.Gln791Pro | Not Rett syndrome - epileptic encephalopathy | Female | 27187038 Zahorakova D et al (2016) | cp508 |
c.2372A>C | p.Gln791Pro | Not Rett syndrome - epileptic encephalopathy | Male | 27187038 Zahorakova D et al (2016) | cp509 |
c.2372A>C | p.Gln791Pro | Not Rett syndrome - epileptic encephalopathy | Male | 27187038 Zahorakova D et al (2016) | cp510 |
Displaying a total number of 82 proband entries.