CDKL5 Variant
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
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, 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.