CDKL5 Variant
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: 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.