CDKL5 Variant

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: 2015-02-26 03:22:52

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.