CDKL5 Variant

   CSV explantation text

Variant ID: cm234
Systematic name: c.248G>T
Protein name: p.Gly83Val
Alternate name(s): p.G83V
Mutation type: missense
Domain: catalytic domain
Pathogenicity class: variant of uncertain significance

First reference: Directly submitted

Comments: only mother tested (negative), in silico predictions: SIFT = deleterious, MutationTaster = disease-causing, Polyphen2 = probably damaging, AlignGVGD = C65 (pathogenic)

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.248G>T p.Gly83Val Not known Female Directly submitted cp485

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