CDKL5 Variant



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Variant ID: cm126

Systematic name: c.2497-?_*1085del

Protein name: p.?

Alternate name(s): p.S833fs (deletion of exons 18 to 21)

Mutation type: exonic deletion or duplication

Domain: regulatory C-terminal

Pathogenicity class: pathogenic variant

dbSNP ID:

First reference: Nishimura, A., Takano, T., Mizuguchi, T., Saitsu, H., Takeuchi, Y., Matsumoto, N. (2009) CDKL5 disruption by t(X;18) in a girl with West syndrome. Clinical Genetics 74:288-290. Pubmed ID: 18564362

Comments: remainder of protein uncertain

Variant last updated on: 2014-03-13 05:51:47

Matching entries in the proband database

cDNA name Protein name Phenotype Gender Reference Proband ID
c.2497-?_*1085del p.? Not Rett syndrome - West syndrome Female 18564362, Nishimura et al (2009) cp270

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