CDKL5 Variant

   CSV explantation text

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: 2018-06-26 10:15:43

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

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