CDKL5 Variant



   CSV explantation text


Variant ID: cm70
Systematic name: c.680T>G
Protein name: p.Leu227Arg
Alternate name(s): p.L227R
Mutation type: missense
Domain: catalytic domain
Pathogenicity class: likely pathogenic variant
dbSNP ID: rs267608515

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 = 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.680T>G p.Leu227Arg Not Rett syndrome - early-onset encephalopathy Female 19793311, Nemos et al (2009) cp99

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