CDKL5 Variant



Variant ID: cm260

Systematic name: c.464-2A>G

Protein name: p.Gly155Alafs*43

Alternate name(s):

Mutation type: frameshift insertion and/or deletion

Domain: catalytic domain

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.464-2A>G p.Gly155Alafs*43 Not Rett syndrome - severe epileptic encephalopathy Female 16015284, Evans et al (2005) cp29
c.464-2A>G p.Gly155Alafs*43 Not Rett syndrome - severe epileptic encephalopathy Female 16015284, Evans et al (2005) cp29
c.464-2A>G p.Gly155Alafs*43 Not Rett syndrome - early-onset epileptic encephalopathy Male 23708187, Carvill et al (2013) cp422
c.464-2A>G p.Gly155Alafs*43 Not Rett syndrome - early-onset epileptic encephalopathy Male 23708187, Carvill et al (2013) cp422
c.464-2A>G p.Gly155Alafs*43 Not Rett syndrome Male 25657822, Fehr S et al (2015) cp558
c.464-2A>G p.Gly155Alafs*43 Not Rett syndrome Male 25657822, Fehr S et al (2015) cp558

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