CDKL5 Variant

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Variant ID: cm148
Systematic name: c.403+27A>G
Protein name: p.=
Alternate name(s): intronic variation
Mutation type: intronic variant
Domain: serine-threonine kinase site
Pathogenicity class: likely benign variant

First reference: Maortua, H., Martinez-Bouzas, C., Calvo, M.-T., Domingo, M.-R., Ramos, F., Garcia-Ribes, A., Martinez, M.-J., Lopez-Ariztegui, M.-A., Puente, N., Rubio, I., Tejada, M.-I. (2012) CDKL5 gene status in female patients with epilepsy and Rett-like features: two new mutations in the catalytic domain. BMC Medical Genetics 13:68. Pubmed ID: 22867051

Comments: no effects on splicing predicted

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.403+27A>G p.= Not Rett syndrome - epilepsy, Rett-like Female 22867051, Maortua et al (2012) cp318

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