CDKL5 Proband Entry



Entry ID: cp36

Systematic name: c.145+4AT[13]

Protein name: p.=

Alternate name(s): intronic variation

Mutation type: intronic variant

Domain: catalytic domain

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 3/37 male controls

dbSNP ID:

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.145+4AT[13] p.= Rett syndrome - not certain Female Roche Martinez et al (2012) cp385
c.145+4AT[13] p.= Rett syndrome - not certain Female Roche Martinez et al (2012) cp386
c.145+4AT[13] p.= Rett syndrome - not certain Female Roche Martinez et al (2012) cp387
c.145+4AT[13] p.= Not known - non-Rett syndrome control Female Roche Martinez et al (2012) cp388
c.145+4AT[13] p.= Not known - non-Rett syndrome control Female Roche Martinez et al (2012) cp389

Displaying a total number of 5 proband entries.