CDKL5 Variant



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