CDKL5 Variant

Variant ID: cm305
Systematic name: c.1612A>G
Protein name: p.Thr538Ala
Alternate name(s):
Mutation type: missense
Domain: not specified
Pathogenicity class: variant of uncertain significance
First reference: Fehr S, Leonard H, Ho G, Williams S, de Klerk N, Forbes D, Christodoulou J, Downs J (2015) There is variability in the attainment of developmental milestones in the CDKL5 disorder. J Neurodev Disord. 7:2. Pubmed ID: 25657822


Variant last updated on: 2018-10-23 12:21:11

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.