CDKL5 Proband Entry



Entry ID: cp42

Systematic name: c.2376+118T>A

Protein name: p.=

Alternate name(s): intronic variation (IVS16+118T>A)

Mutation type: intronic variant

Domain: regulatory C-terminal

Pathogenicity class: benign variant

Gender: Unknown

Phenotype: Not known

Other mutation:

X-inactivation results: No

Chromosomal abnormality: Not known

Method of testing: DHPLC, exons 1-21

Source of DNA: blood

Familial testing: No

Familial X-inactivation:

Control screening: No

dbSNP ID: rs3752484

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: 2014-03-13 06:05:23

Similar entries in the proband database

cDNA name Protein name Phenotype Gender Reference Proband ID
c.2376+118T>A p.= Not Rett syndrome - West syndrome Male 20397747 White et al (2010) cp167
c.2376+118T>A p.= Not Rett syndrome - West syndrome Male 20397747 White et al (2010) cp168
c.2376+118T>A p.= Not Rett syndrome - West syndrome Male 20397747 White et al (2010) cp169
c.2376+118T>A p.= Rett syndrome - not certain Female 20397747 White et al (2010) cp170
c.2376+118T>A p.= Rett syndrome - not certain Female 20397747 White et al (2010) cp171
c.2376+118T>A p.= Rett syndrome - not certain Female 20397747 White et al (2010) cp172
c.2376+118T>A p.= Rett syndrome - not certain Female 20397747 White et al (2010) cp173
c.2376+118T>A p.= Rett syndrome - not certain Female 20397747 White et al (2010) cp174
c.2376+118T>A p.= Rett syndrome - not certain Female 20397747 White et al (2010) cp175
c.2376+118T>A p.= Rett syndrome - not certain Female 20397747 White et al (2010) cp176
c.2376+118T>A p.= Rett syndrome - not certain Female 20397747 White et al (2010) cp177
c.2376+118T>A p.= Rett syndrome - not certain Female 20397747 White et al (2010) cp178
c.2376+118T>A p.= Rett syndrome - not certain Female 20397747 White et al (2010) cp179
c.2376+118T>A p.= Rett syndrome - not certain Female 20397747 White et al (2010) cp180
c.2376+118T>A p.= Rett syndrome - not certain Female 20397747 White et al (2010) cp181
c.2376+118T>A p.= Rett syndrome - not certain Female 20397747 White et al (2010) cp182
c.2376+118T>A p.= Rett syndrome - not certain Female 20397747 White et al (2010) cp183
c.2376+118T>A p.= Rett syndrome - not certain Female 20397747 White et al (2010) cp184
c.2376+118T>A p.= Rett syndrome - not certain Female 20397747 White et al (2010) cp185
c.2376+118T>A p.= Rett syndrome - not certain Female 20397747 White et al (2010) cp186
c.2376+118T>A p.= Rett syndrome - not certain Female 20397747 White et al (2010) cp187

Displaying a total number of 21 proband entries.