CDKL5 Variant



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Variant ID: cm89

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

dbSNP ID:

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: causes skipping of exon 3

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
c.99+5G>A p.Ala23Asnfs*3 Not Rett syndrome - early-onset epilepsy with severe intellectual disability Female 21765152, Stalpers et al (2012) cp331

Displaying a total number of 2 proband entries matching this variant.