CDKL5 Variant

Variant ID: cm225
Systematic name: c.395T>G
Protein name: p.Val132Gly
Alternate name(s): p.V132G
Mutation type: missense
Domain: serine-threonine kinase site
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 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.395T>G p.Val132Gly Rett syndrome - early-onset seizure Female 19362436, Artuso et al (2010) cp463
c.395T>G p.Val132Gly Not Rett syndrome Female 25657822, Fehr S et al (2015) cp552

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