CDKL5 Proband Search Results
| cDNA name | Protein name | Pathogenicity class | Phenotype | Gender | Reference | Proband ID |
|---|---|---|---|---|---|---|
| c.433C>T | p.His145Tyr | variant of uncertain significance | Not Rett syndrome - epileptic encephalopathy | Male | 23708187 Carvill et al (2013) | cp423 |
| c.433C>T | p.His145Tyr | variant of uncertain significance | Unaffected - unaffected family member | Female | 23708187 Carvill et al (2013) | cp432 |
| c.464-2A>G | p.Gly155Alafs*43 | pathogenic variant | Not Rett syndrome - early-onset epileptic encephalopathy | Male | 23708187 Carvill et al (2013) | cp422 |
| c.464-2A>G | p.Gly155Alafs*43 | pathogenic variant | Not Rett syndrome - early-onset epileptic encephalopathy | Male | 23708187 Carvill et al (2013) | cp422 |
| c.533G>A | p.Arg178Gln | pathogenic variant | Not Rett syndrome - early-onset epileptic encephalopathy | Male | 23708187 Carvill et al (2013) | cp427 |
| c.545T>C | p.Leu182Pro | likely pathogenic variant | Not Rett syndrome - early-onset epileptic encephalopathy | Female | 23708187 Carvill et al (2013) | cp424 |
| c.620G>A | p.Gly207Glu | likely pathogenic variant | Not Rett syndrome - epileptic encephalopathy | Female | 23708187 Carvill et al (2013) | cp428 |
| c.1741C>T | p.His581Tyr | variant of uncertain significance | Not Rett syndrome - uncertain | Unknown | 23708187 Carvill et al (2013) | cp430 |
| c.1925delT | p.Leu642Argfs*16 | pathogenic variant | Not Rett syndrome - infantile spasms | Male | 23708187 Carvill et al (2013) | cp426 |
| c.1925delT | p.Leu642Argfs*16 | pathogenic variant | Not Rett syndrome - early-onset epileptic encephalopathy | Male | 23708187 Carvill et al (2013) | cp429 |
| c.2564C>G | p.Ser855* | pathogenic variant | Not Rett syndrome - infantile spasms | Female | 23708187 Carvill et al (2013) | cp425 |
| c.2572C>T | p.Arg858Cys | variant of uncertain significance | Not Rett syndrome - uncertain | Unknown | 23708187 Carvill et al (2013) | cp431 |
Displaying 12 entries
The construction, maintenance and upgrade of RettBASE have been made possible by the very generous financial support of the RettSyndrome.org, formerly International Rett Syndrome Foundation.
To cite RettBASE, please use :
Krishnaraj R, Ho G, Christodoulou J. 2017. RettBASE: Rett syndrome database update. Hum Mutat 2017;00:1-10. Pubmed: 28544139
orChristodoulou J, Grimm A, Maher T, Bennetts B. 2003. RettBASE: The IRSA MECP2 Variation Database - A New Mutation Database in Evolution. Hum Mutat 21:466-472. Pubmed: 12673788
orRettBASE: RettSyndrome.org Variation Database mecp2.chw.edu.au
The RettBASE databases and website are curated and maintained by Prof. John Christodoulou and Rahul Krishnaraj, Western Sydney Genetics Program, Children's Hospital Westmead, formerly with Andrew Grimm. We thank our collaborators for their input and support for this project.
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Copyright © Western Sydney Genetics Program, Children's Hospital Westmead, 2014
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