CDKL5 Variant

Variant ID: cm246
Systematic name: c.1684A>G
Protein name: p.Thr562Ala
Alternate name(s): p.T562A
Mutation type: missense
Pathogenicity class: variant of uncertain significance
First reference: Directly submitted


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.1684A>G p.Thr562Ala Not Rett syndrome - infantile spasms, developmental delay ( fine motor, speech), acquired microcephaly Female Directly submitted cp499

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