CDKL5 Variant



Variant ID: cm116

Systematic name: c.100-?_145+?del

Protein name: p.(Glu34Lysfs*27)

Alternate name(s): p.E34fs (deletion of exon 4)

Mutation type: exonic deletion or duplication

Domain: ATP binding region

Pathogenicity class: pathogenic variant

dbSNP ID:

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: protein change prediction based on skipping on exon 4

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.100-?_145+?del p.(Glu34Lysfs*27) Not Rett syndrome - intractable epilpsy, psychomotor retardation, hypotonia Female 21293276, Bartnik et al (2011) cp228

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