CDKL5 Variant



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Variant ID: cm29

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

dbSNP ID: rs3752484

First reference: 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

Comments: common polymorphism in intron 16

Variant last updated on: 2014-03-13 05:41:08

Matching entries in the proband database

cDNA name Protein name Phenotype Gender Reference Proband ID
c.2376+118T>A p.= Not known Unknown 16015284, Evans et al (2005) cp42
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 22 proband entries matching this variant.