CDKL5 Variant

Variant ID: cm117
Systematic name: c.[=/-253-?_99+?del]
Protein name: p.[=/Met1?]
Alternate name(s): p.[=/M1?]
Mutation type: exonic deletion or duplication
Domain: 5'UTR
Pathogenicity class: pathogenic variant
First reference: Bartnik, M., Derwinska, K., Gos, M., Obersztyn, E., Kolodziejska, K.E., Erez, A., Szpecht-Potocka, A., Fang, P., Terczynska, I., Mierzewska, H., Lohr, N.J., Bellus, G.A., Reimschisel, T., Bocian, E., Mazurczak, T., Cheung, S.W., Stankiewicz, P. (2011) Early-onset seizures due to mosaic exonic deletions of CDKL5 in a male and two females. Genetics in Medicine 13:447-452. Pubmed ID: 21293276

Comments: mosaic mutation (in 46,XY male)

Variant last updated on: 2014-03-13 05:51:47

Matching entries in the proband database

cDNA name Protein name Phenotype Gender Reference Proband ID
c.[=/-253-?_99+?del] p.[=/Met1?] Not Rett syndrome - severe developmental delay with possible regression Male 21293276, Bartnik et al (2011) cp227

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