CDKL5 Variant

Variant ID: cm312

Systematic name: c.1030_1031insGAC

Protein name: p.Lys344delinsArgGln

Alternate name(s):

Mutation type: exonic deletion or duplication

Domain: not specified

Pathogenicity class: variant of uncertain significance


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


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.1030_1031insGAC p.Lys344delinsArgGln Not Rett syndrome Female 25657822, Fehr S et al (2015) cp513

Displaying a total number of 1 proband entries matching this variant.