CDKL5 Variant



Variant ID: cm236

Systematic name: c.593G>A

Protein name: p.Gly198Asp

Alternate name(s): p.G198D

Mutation type: missense

Domain: catalytic domain

Pathogenicity class: variant of uncertain significance

dbSNP ID:

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.593G>A p.Gly198Asp Not Rett syndrome - Rett-like Female Directly submitted cp487

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