CDKL5 Variant



Variant ID: cm147

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

dbSNP ID: rs184407021

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: found in normal population

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.-426C>G p.= Not Rett syndrome - epilepsy, Rett-like Female 22867051, Maortua et al (2012) cp312
c.-426C>G p.= Unaffected - non-RTT control Female 22867051, Maortua et al (2012) cp313
c.-426C>G p.= Unaffected - non-RTT control Female 22867051, Maortua et al (2012) cp314
c.-426C>G p.= Unaffected - non-RTT control Female 22867051, Maortua et al (2012) cp315
c.-426C>G p.= Unaffected - non-RTT control Female 22867051, Maortua et al (2012) cp316
c.-426C>G p.= Unaffected - non-RTT control Female 22867051, Maortua et al (2012) cp317

Displaying a total number of 6 proband entries matching this variant.