CDKL5 Variant

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Variant ID: cm143
Systematic name: c.510_511dup
Protein name: p.Tyr171Cysfs*58
Alternate name(s): p.Y171Cfs*58
Mutation type: frameshift insertion and/or deletion
Domain: TEY phosphorylation site
Pathogenicity class: pathogenic 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


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.510_511dup p.Tyr171Cysfs*58 Rett syndrome - early-onset seizures Female 22867051, Maortua et al (2012) cp300

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