CDKL5 Variant

Variant ID: cm235
Systematic name: c.1612A>G
Protein name: p.Thr538Ala
Alternate name(s): p.T538A
Mutation type: missense
Domain: not specified
Pathogenicity class: variant of uncertain significance
First reference: Directly submitted

Comments: no parental testing done, in silico predictions: SIFT = deleterious, MutationTaster = polymorphism, Polyphen2 = benign, 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.1612A>G p.Thr538Ala Rett syndrome - male variant Male Directly submitted cp486
c.1612A>G p.Thr538Ala Not Rett syndrome Male 25657822, Fehr S et al (2015) cp524

Displaying a total number of 2 proband entries matching this variant.