CDKL5 Variant
Systematic name: c.1330C>T
Protein name: p.Arg444Cys
Alternate name(s): p.R444C
Mutation type: missense
Domain: not specified
Pathogenicity class: benign variant
dbSNP ID: rs61753977
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: benign variation, found in normal male relative; in silico predictions: SIFT = deleterious, MutationTaster = disease-causing, PolyPhen2 = benign, AlignGVGD = pathogenic (C65)
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.1330C>T | p.Arg444Cys | Rett syndrome - not certain | Female | 16015284, Evans et al (2005) | cp32 |
c.1330C>T | p.Arg444Cys | Unaffected - unaffected family member | Male | 16015284, Evans et al (2005) | cp33 |
c.1330C>T | p.Arg444Cys | Not Rett syndrome - epileptic encephalopathy | Unknown | 23064044, Raymond et al (2013) | cp363 |
c.1330C>T | p.Arg444Cys | Unaffected - unaffected family member | Female | 23064044, Raymond et al (2013) | cp364 |
Displaying a total number of 4 proband entries matching this variant.