CDKL5 Variant



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Variant ID: cm303
Systematic name: c.2477-?_2713+?del
Protein name: p.Ser833Thrfs*22
Alternate name(s):
Mutation type: frameshift insertion and/or deletion
Domain: regulatory C-terminal
Pathogenicity class: 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.2477-?_2713+?del p.Ser833Thrfs*22 Not Rett syndrome Female 25657822, Fehr S et al (2015) cp541
c.2477-?_2713+?del p.Ser833Thrfs*22 Not Rett syndrome Female 25657822, Fehr S et al (2015) cp542

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