CDKL5 Variant

   CSV explantation text

Variant ID: cm237
Systematic name: c.65G>T
Protein name: p.Gly22Val
Alternate name(s): p.G22V
Mutation type: missense
Domain: ATP binding region
Pathogenicity class: variant of uncertain significance

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.65G>T p.Gly22Val Not Rett syndrome - intractible epilepsy, severe delay Female Directly submitted cp489

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