CDKL5 Variant



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

dbSNP ID:

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:

Variant last updated on: 2014-03-13 05:51:47

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.