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: 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.