CDKL5 Variant

Variant ID: cm69
Systematic name: c.532C>T
Protein name: p.Arg178Trp
Alternate name(s): p.R178W
Mutation type: missense
Domain: catalytic domain
Pathogenicity class: likely pathogenic variant
dbSNP ID: rs267608493

First reference: Nemos, C., Lambert, L., Giuliano, F., Doray, B., Roubertie, A., Goldenberg, A., Delobel, B., Lyet, V., N'guyen, M.A., Saunier, A., Verneau, F., Jonveaux, P., Philippe, C (2009) Mutation spectrum of CDKL5 in early-onset encephalopathies: a study of a large collection of French patients and review of the literature. Clinical Genetics 76:357-371. Pubmed ID: 19793311

Comments: In silico prediction: SIFT = deleterious, MutationTaster = disease-causing, PolyPhen2 = probably damaging, AlignGVGD = benign (C0)

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.532C>T p.Arg178Trp Not Rett syndrome - early-onset encephalopathy Female 19793311, Nemos et al (2009) cp98
c.532C>T p.Arg178Trp Rett syndrome - congenital onset Female Directly submitted cp265
c.532C>T p.Arg178Trp Rett syndrome - early-onset seizure Female 19362436, Artuso et al (2010) cp335
c.532C>T p.Arg178Trp Not Rett syndrome - epileptic encephalopathy Female 22678952, Bahi-Buisson et al (2012) cp455

Displaying a total number of 4 proband entries matching this variant.