CDKL5 Variant

Variant ID: cm203
Systematic name: c.[=/2377-1569_2497-285delins38/2497-289_2713+3834del4342]
Protein name: p.[=/Val793Thrfs*22/Ser833Thrfs*22]
Alternate name(s): p.[=/Val793fs/Ser833fs], p.[=/V793fs/S833fs]
Mutation type: combination/multiple mutations
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: complex mosaicism of two non-contiguous deletions of exon 17 (mosaicism 35%) and exon 18 (30%)

Variant last updated on: 2014-11-03 23:18:58

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.