CDKL5 Proband Entry
Entry ID: cp300
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
Gender: Female
Phenotype: Rett syndrome - early-onset seizures
Other mutation:
X-inactivation results: No
Chromosomal abnormality: Not known
Method of testing: CSGE, MECP2 negative
Source of DNA: not certain
Familial testing: de novo
Familial X-inactivation:
Control screening: No
dbSNP ID:
Source: 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
Publication ID:
Comments:
Entry last updated on: 2018-06-05 13:45:42
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There are no other entries in the database with a similar genotype.