CDKL5 Variant



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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

dbSNP ID:

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: 2014-10-31 04:29:20

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.