CDKL5 Proband Search Results

cDNA name	Protein name	Pathogenicity class	Phenotype	Gender	Reference	Proband ID
c.211A>G	p.Asn71Asp	likely pathogenic variant	Rett syndrome - early-onset seizure	Female	19362436 Artuso et al (2010)	cp338
c.395T>G	p.Val132Gly	likely pathogenic variant	Rett syndrome - early-onset seizure	Female	19362436 Artuso et al (2010)	cp463
c.395T>G	p.Val132Gly	variant of uncertain significance	Rett syndrome - early-onset seizure	Female	19362436 Artuso et al (2010)	cp463
c.532C>T	p.Arg178Trp	likely pathogenic variant	Rett syndrome - early-onset seizure	Female	19362436 Artuso et al (2010)	cp335
c.609G>C	p.Glu203Asp	likely pathogenic variant	Rett syndrome - early-onset seizure	Female	19362436 Artuso et al (2010)	cp462
c.1039C>T	p.Gln347*	pathogenic variant	Rett syndrome - early-onset seizure	Female	19362436 Artuso et al (2010)	cp461
c.1039C>T	p.Gln347*	pathogenic variant	Rett syndrome - early-onset seizure	Female	19362436 Artuso et al (2010)	cp461

Displaying 7 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

Christodoulou 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

RettBASE: 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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