CDKL5 Variant



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Variant ID: cm268
Systematic name: c.395T>G
Protein name: p.Val132Gly
Alternate name(s):
Mutation type: missense
Domain: serine-threonine kinase site
Pathogenicity class: variant of uncertain significance
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.395T>G p.Val132Gly Rett syndrome - early-onset seizure Female 19362436, Artuso et al (2010) cp463
c.395T>G p.Val132Gly Rett syndrome - early-onset seizure Female 19362436, Artuso et al (2010) cp463
c.395T>G p.Val132Gly Not Rett syndrome Female 25657822, Fehr S et al (2015) cp552
c.395T>G p.Val132Gly Not Rett syndrome Female 25657822, Fehr S et al (2015) cp552

Displaying a total number of 4 proband entries matching this variant.