CDKL5 Variant



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

dbSNP ID:

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

Comments:

Variant last updated on: 2014-05-15 05:57:52

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.