CDKL5 Variant

Variant ID: cm232
Systematic name: c.855A>C
Protein name: p.Arg285Ser
Alternate name(s): p.R285S
Mutation type: missense
Domain: catalytic domain
Pathogenicity class: variant of uncertain significance
dbSNP ID: rs267608532

First reference: Directly submitted

Comments: no parental testing done, in silico predictions: SIFT = deleterious, MutationTaster = disease-causing, Polyphen2 = probably damaging, AlignGVGD = C0 (benign)

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.855A>C p.Arg285Ser Not Rett syndrome - epileptic encephalopathy Female 22264704, Moseley et al (2012) cp471

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