CDKL5 Proband Entry



Entry ID: cp25

Systematic name: c.-391G>T

Protein name: p.=

Alternate name(s): 5'UTR variation

Mutation type: 5'UTR variation

Domain: 5'UTR

Pathogenicity class: benign variant

Gender: Male

Phenotype: Not known - normal control

Other mutation:

X-inactivation results: Not applicable

Chromosomal abnormality: Not known

Method of testing: DHPLC, exons 1-21

Source of DNA: blood

Familial testing: No

Familial X-inactivation:

Control screening: found in 2/69 male controls

dbSNP ID: rs191864898

Source: Evans, J.C., Archer, H.L., Colley, J.P., Ravn, K., Bieber Nielsen, J., Kerr, A., Williams, E., Christodoulou, J., Gecz, J., Jardine, P.E., Wright, M.J., Pilz, D.T., Lazarou, L., Cooper, D.N., Sampson, J.R., Butler, R., Whatley, S.D., Clarke, A.J. (2005) Early onset seizures and Rett-like features associated with mutations in CDKL5. Eur J Hum Genet 13:1113-1120. Pubmed ID: 16015284

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.-391G>T p.= Not known - normal control Male 16015284 Evans et al (2005) cp24
c.-391G>T p.= Not Rett syndrome - epilepsy, Rett-like Female 22867051 Maortua et al (2012) cp322
c.-391G>T p.= Not Rett syndrome - epilepsy, Rett-like Female 22867051 Maortua et al (2012) cp323
c.-391G>T p.= Not known - non-RTT control Female 22867051 Maortua et al (2012) cp324
c.-391G>T p.= Not known - non-RTT control Female 22867051 Maortua et al (2012) cp325
c.-391G>T p.= Not known - non-RTT control Female 22867051 Maortua et al (2012) cp326
c.-391G>T p.= Not known - non-RTT control Female 22867051 Maortua et al (2012) cp327

Displaying a total number of 7 proband entries.