CDKL5 Variant
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: 2018-06-05 14:40:30
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.