CDKL5 Variant

   CSV explantation text

Variant ID: cm238
Systematic name: c.518C>A
Protein name: p.Ala173Asp
Alternate name(s): p.A173D
Mutation type: missense
Domain: catalytic domain
Pathogenicity class: likely pathogenic variant

First reference: Directly submitted

Comments: de novo missense mutation, 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.[=/518C>A] p.[=/Ala173Asp] Rett syndrome - Rett-like male Male Directly submitted cp491

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