CDKL5 Variant

   CSV explantation text

Variant ID: cm72
Systematic name: c.191T>C
Protein name: p.Leu64Pro
Alternate name(s): p.L64P
Mutation type: missense
Domain: catalytic domain
Pathogenicity class: likely pathogenic variant
dbSNP ID: rs267608435

First reference: Fichou, Y., Bieth, E., Bahi-Buisson, N., Nectoux, J., Girard, B., Chelly, J., Chaix, Y., Bienvenu, T. (2009) CDKL5 mutations in boys with severe encephalopathy and early-onset intractable epilepsy. Neurology 73:77-78. Pubmed ID: 19564592

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.191T>C p.Leu64Pro Not Rett syndrome - severe encephalopathy and early-onset seizures Male 19564592, Fichou et al (2009) cp106

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