CDKL5 Variant

Variant ID: cm91
Systematic name: c.[=/99+5G>A]
Protein name: p.[=/Ala23Asnfs*3]
Alternate name(s): intronic variation (r.65_99del, exon 3 skipping)
Mutation type: splicing variant
Domain: ATP binding region
Pathogenicity class: pathogenic variant
First reference: Masliah-Plachon, J., Auvin, S., Nectoux, J., Fichou, Y., Chelly, J., Bienvenu, T. (2010) Somatic mosaicism for a CDKL5 mutation as an epileptic encephalopathy in males. American Journal of Medical Genetics Part A 152A:2110-2111. Pubmed ID: 20602487

Comments: mosaic mutation (in 46,XY male)

Variant last updated on: 2014-03-13 05:45:19

Matching entries in the proband database

cDNA name Protein name Phenotype Gender Reference Proband ID
c.[=/99+5G>A] p.[=/Ala23Asnfs*3] Not Rett syndrome - encephalopathy and early-onset seizures Male 20602487, Masliah-Plachon et al (2010) cp140

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