CDKL5 Variant
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
dbSNP ID:
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.