CDKL5 Variant

   CSV explantation text

Variant ID: cm226
Systematic name: c.609G>C
Protein name: p.Glu203Asp
Alternate name(s): p.E203D
Mutation type: missense
Domain: catalytic domain
Pathogenicity class: likely pathogenic variant

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

Comments: Not in dbSNP or ESP6500, de novo variant in a female with atypical RTT; highly conserved amino acid, in silico predictions AlignGVGD, SIFT, MutationTaster, PolyPhen2 all pathogenic; variant given as 609C>G, assumed typo and corrected to 609G>C

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.609G>C p.Glu203Asp Rett syndrome - early-onset seizure Female 19362436, Artuso et al (2010) cp462

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