CDKL5 Variant

Variant ID: cm134
Systematic name: c.1039C>T
Protein name: p.Gln347*
Alternate name(s): p.Q347X
Mutation type: nonsense
Domain: not specified
Pathogenicity class: pathogenic variant
dbSNP ID: rs267608561

First reference: Artuso, R., Mencarelli, M.A., Polli, R., Sartori, S., Ariani, F., Pollazzon, M., Marozza, A., Cilio, M.R., Specchio, N., Vigevano, F., Vecchi, M., Boniver, C., Dalla Bernardina, B., Parmeggiani, A., Buoni, S., Hayek, G., Mari, F., Renieri, A., Murgia, A. (2010) Early-onset seizure variant of Rett syndrome: definition of the clinical diagnostic criteria. Brain & Development 32:17-24. Pubmed ID: 19362436


Variant last updated on: 2018-06-05 14:40:30

Matching entries in the proband database

cDNA name Protein name Phenotype Gender Reference Proband ID
c.1039C>T p.Gln347* Not Rett syndrome - epileptic encephalopathy Female 21770923, Liang et al (2011) cp290
c.1039C>T p.Gln347* Rett syndrome - early-onset seizure Female 19362436, Artuso et al (2010) cp461
c.1039C>T p.Gln347* Not Rett syndrome Female 25657822, Fehr S et al (2015) cp514

Displaying a total number of 3 proband entries matching this variant.