CDKL5 Variant



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Variant ID: cm302
Systematic name: c.2420_2430del
Protein name: p.Ser807Cysfs*2
Alternate name(s):
Mutation type: frameshift insertion and/or deletion
Domain: regulatory C-terminal
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.[=/2420_2430del] p.[=/Ser807Cysfs*2] Not Rett syndrome - developmental delay Male Directly submitted cp493
c.2420_2430del p.Ser807Cysfs*2 Not Rett syndrome Male 25657822, Fehr S et al (2015) cp540
c.2420_2430del p.Ser807Cysfs*2 Not Rett syndrome Male 25657822, Fehr S et al (2015) cp540

Displaying a total number of 3 proband entries matching this variant.