CDKL5 Variant



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

dbSNP ID:

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: 2015-02-26 03:22:52

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.