CDKL5 Variant

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Variant ID: cm144
Systematic name: c.745-?_825+?del
Protein name: p.Phe249_Lys275del
Alternate name(s): p.F249_K275del (exon 10 deletion)
Mutation type: exonic deletion or duplication
Domain: catalytic domain
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

Comments: cDNA analysis showed skipping of exon 10

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.745-?_825+?del p.Phe249_Lys275del Not Rett syndrome - infantile-onset seizures Female 22867051, Maortua et al (2012) cp301

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