CDKL5 Variant

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Variant ID: cm184
Systematic name: c.528G>T
Protein name: p.Trp176Cys
Alternate name(s): p.W176C
Mutation type: missense
Domain: catalytic domain
Pathogenicity class: pathogenic variant

First reference: Roche Martinez, A., Armstrong, J., Gerotina, E., Fons, C., Campistol, J., Pineda, M. (2012) CDKL5 in different atypical Rett syndrome variants: description of the first eight patients from Spain. Journal of Pediatric Epilepsy 1:27-35

Comments: de novo mutation near phosphorylation site; 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.528G>T p.Trp176Cys Rett syndrome - atypical, early onset seizures Female Roche Martinez et al (2012) cp378

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