CDKL5 Variant

   CSV explantation text

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: 2015-02-26 03:22:52

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.