CDKL5 Variant



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Variant ID: cm23

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.