CDKL5 Variant

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Variant ID: cm183
Systematic name: c.-253-?_64+?del
Protein name: p.Met1?
Alternate name(s): p.M1? (deletion of exons 1 to 2)
Mutation type: exonic deletion or duplication
Domain: 5'UTR
Pathogenicity class: pathogenic variant

First reference: Roche Martinez, A., Armstrong, J., Gerotina, E., Fons, C., Campistol, J., Pineda, M. (2012) CDKL5 in different atypical Rett syndrome variants: description of the first eight patients from Spain. Journal of Pediatric Epilepsy 1:27-35


Variant last updated on: 2018-06-05 14:40:30

Matching entries in the proband database

cDNA name Protein name Phenotype Gender Reference Proband ID
c.-253-?_64+?del p.Met1? Rett syndrome - atypical, early onset seizures Female Roche Martinez et al (2012) cp377

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