CDKL5 Variant



Variant ID: cm240
Systematic name: c.2420_2430del
Protein name: p.Ser807Cysfs*2
Alternate name(s): p.S807CfsX2
Mutation type: frameshift insertion and/or deletion
Domain: regulatory C-terminal
Pathogenicity class: pathogenic variant
dbSNP ID:
First reference: Directly submitted

Comments:

Variant last updated on: 2018-06-05 14:40:30

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.