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.