CDKL5 Variant
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
dbSNP ID:
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.