CDKL5 Proband Entry



Entry ID: cp316

Systematic name: c.-426C>G

Protein name: p.=

Alternate name(s): 5'UTR variation

Mutation type: 5'UTR variation

Domain: 5'UTR

Pathogenicity class: benign variant

Gender: Female

Phenotype: Not known - non-RTT control

Other mutation:

X-inactivation results: No

Chromosomal abnormality: Not known

Method of testing: CSGE, MECP2 negative

Source of DNA: not certain

Familial testing: No

Familial X-inactivation:

Control screening: found in 5/200 (2.5%) of chromosomes

dbSNP ID: rs184407021

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: 2014-05-09 06:12:32

Similar entries in the proband database

cDNA name Protein name Phenotype Gender Reference Proband ID
c.-426C>G p.= Not Rett syndrome - epilepsy, Rett-like Female 22867051 Maortua et al (2012) cp312
c.-426C>G p.= Not known - non-RTT control Female 22867051 Maortua et al (2012) cp313
c.-426C>G p.= Not known - non-RTT control Female 22867051 Maortua et al (2012) cp314
c.-426C>G p.= Not known - non-RTT control Female 22867051 Maortua et al (2012) cp315
c.-426C>G p.= Not known - non-RTT control Female 22867051 Maortua et al (2012) cp317

Displaying a total number of 5 proband entries.