CDKL5 Variant

Variant ID: cm158

Systematic name: c.464-1G>A

Protein name: p.?

Alternate name(s): intronic variation

Mutation type: splicing variant

Domain: catalytic domain

Pathogenicity class: pathogenic variant


First reference: Willemsen, M.H., Rensen, J.H.M., van Schrojenstein-Lantman de Valk, H.M.J., Hamel, B.C.J., Kleefstra, T. (2012) Adult phenotypes in Angelman- and Rett-like syndromes. Mol Syndromol 2:217-234. Pubmed ID: 22670143

Comments: disrupts splice site but effect on transcript uncertain

Variant last updated on: 2014-03-13 05:52:46

Matching entries in the proband database

cDNA name Protein name Phenotype Gender Reference Proband ID
c.464-1G>A p.? Rett syndrome - early-onset seizure Female 22670143, Willemsen et al (2012) cp342

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