CDKL5 Variant



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

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: 2014-05-15 05:57:52

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.