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: 2018-06-05 13:45:42
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.