CDKL5 Variant



Variant ID: cm20

Systematic name: c.215T>A

Protein name: p.Ile72Asn

Alternate name(s): p.I72N

Mutation type: missense

Domain: catalytic domain

Pathogenicity class: pathogenic variant

dbSNP ID: rs62641235

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: conserved residue in catalytic domain, de novo mutation; In silico prediction: SIFT = deleterious, MutationTaster = disease-causing, PolyPhen2 = probably damaging, AlignGVGD = benign (C0)

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.215T>A p.Ile72Asn Rett syndrome - early seizure Female 16015284, Evans et al (2005) cp31

Displaying a total number of 1 proband entries matching this variant.