CDKL5 Variant
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.