CDKL5 Variant
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: 2018-06-05 14:40:30
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.