CDKL5 Variant
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
dbSNP ID:
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: polymorphic [AT] repeats in intron 4
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.145+4AT[13] | p.= | Unaffected - normal control | Male | 16015284, Evans et al (2005) | cp36 |
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.= | Unaffected - non-Rett syndrome control | Female | Roche Martinez et al (2012) | cp388 |
c.145+4AT[13] | p.= | Unaffected - non-Rett syndrome control | Female | Roche Martinez et al (2012) | cp389 |
Displaying a total number of 6 proband entries matching this variant.