CDKL5 Variant



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Variant ID: cm286
Systematic name: c.1039C>T
Protein name: p.Gln347*
Alternate name(s):
Mutation type: nonsense
Domain: not specified
Pathogenicity class: pathogenic variant
dbSNP ID:

First reference: Fehr S,Leonard H, Ho G, Williams S, de Klerk N, Forbes D, Christodoulou J, Downs J (2015) There is variability in the attainment of developmental milestones in the CDKL5 disorder. J Neurodev Disord. 7:2. Pubmed ID: 25657822

Comments:

Variant last updated on: 2018-10-23 12:21:11

Matching entries in the proband database

cDNA name Protein name Phenotype Gender Reference Proband ID
c.1039C>T p.Gln347* Not Rett syndrome - epileptic encephalopathy Female 21770923, Liang et al (2011) cp290
c.1039C>T p.Gln347* Not Rett syndrome - epileptic encephalopathy Female 21770923, Liang et al (2011) cp290
c.1039C>T p.Gln347* Rett syndrome - early-onset seizure Female 19362436, Artuso et al (2010) cp461
c.1039C>T p.Gln347* Rett syndrome - early-onset seizure Female 19362436, Artuso et al (2010) cp461
c.1039C>T p.Gln347* Not Rett syndrome Female 25657822, Fehr S et al (2015) cp514
c.1039C>T p.Gln347* Not Rett syndrome Female 25657822, Fehr S et al (2015) cp514

Displaying a total number of 6 proband entries matching this variant.