CDKL5 Variant

   CSV explantation text

Variant ID: cm124
Systematic name: c.-162-?_145+?del
Protein name: p.Met1?
Alternate name(s): p.M1? (deletion of exons 1a to 4)
Mutation type: exonic deletion or duplication
Domain: 5'UTR
Pathogenicity class: pathogenic variant

First reference: Erez, A., Patel, A.J., Wang, X., Xia, Z., Bhatt, S.S., Craigen, W., Cheung, S.W., Lewis, R.A., Fang, P., Davenport, S.L.H., Stankiewicz, P., Lalani, S.R. (2009) Alu-specific microhomology-mediated deletions in CDKL5 in females with early-onset seizure disorder. Neurogenetics 10:363-369. Pubmed ID: 19471977


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.-162-?_145+?del p.Met1? Not Rett syndrome - early-onset seizures Female 19471977, Erez et al (2009) cp267

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