CDKL5 Variant

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Variant ID: cm202
Systematic name: c.2377-1569_2497-285delins38
Protein name: p.Val793Thrfs*22
Alternate name(s): p.V793fs (deletion of exon 17, leading to skipping
Mutation type: exonic deletion or duplication
Domain: regulatory C-terminal
Pathogenicity class: pathogenic variant

First reference: Boutry-Kryza, N., Ville, D., Labalme, A., Calender, A., Dupont, J.-M., Touraine, R., Edery, P., des Portes, V., Sanlaville, D., Lesca, G. (2014) Complex mosaic CDKL5 deletion with two distinct mutant alleles in a 4-year-old girl. American Journal of Medical Genetics Part A 164A:2025-2028. Pubmed ID: 24715584

Comments: deletion size 4530 bp, 38bp insertion from chrX(hg19):g.18650486_18650523, cDNA analysis shows skipping of exons 17 and 18

Variant last updated on: 2014-10-31 04:28:54

Matching entries in the proband database

cDNA name Protein name Phenotype Gender Reference Proband ID
c.[=/2377-1569_2497-285delins38/2497-289_2713+3834del4342] p.[=/Val793Thrfs*22/Ser833Thrfs*22] Not Rett syndrome - infantile spasms, CDKL5-related phenotype Female 24715584, Boutry-Kryza et al (2014) cp419

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