CDKL5 Variant

   CSV explantation text

Variant ID: cm182
Systematic name: c.1266C>A
Protein name: p.Asp422Glu
Alternate name(s): p.D422E
Mutation type: missense
Domain: not specified
Pathogenicity class: variant of uncertain significance

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, but similar sidechains; in silico predictions: SIFT = tolerated, MutationTaster = polymorphism, PolyPhen2 = benign, 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.1266C>A p.Asp422Glu Rett syndrome - atypical, preserved speech Female Roche Martinez et al (2012) cp376

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