CDKL5 Variant
Variant ID: cm269
Systematic name: c.404A>G
Protein name: p.Asp135Gly
Alternate name(s):
Mutation type: missense
Domain: serine-threonine kinase site
Pathogenicity class: likely pathogenic variant
dbSNP ID:
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
Comments:
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.404A>G | p.Asp135Gly | Not Rett syndrome | Male | 25657822, Fehr S et al (2015) | cp554 |
Displaying a total number of 1 proband entries matching this variant.