CDKL5 Variant

   CSV explantation text

Variant ID: cm428
Systematic name: c.530A>G
Protein name: p.Tyr177Cys
Alternate name(s):
Mutation type: missense
Domain: catalytic domain
Pathogenicity class: variant of uncertain significance

First reference: Christianto, A. Katayama, S. Kameshita, I. Inazu, T. (2016) A novel CDKL5 mutation in a Japanese patient with atypical Rett syndrome . Clin Chim Acta 459:132-136. Pubmed ID: 27265524


Variant last updated on: 2019-10-10 10:59:12

Matching entries in the proband database

cDNA name Protein name Phenotype Gender Reference Proband ID
c.530A>G p.Tyr177Cys Not Rett syndrome Female 27265524, Christianto, A. et al (2016) cp584

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