CDKL5 Variant



Variant ID: cm103

Systematic name: c.-162-?_*1085del

Protein name: p.Met1?

Alternate name(s): p.M1? (deletion of exons 2 to 21)

Mutation type: exonic deletion or duplication

Domain: 5'UTR

Pathogenicity class: pathogenic variant

dbSNP ID:

First reference: Mei, D., Marini, C., Novara, F., Bernardina, B.D., Granata, T., Fontana, E., Parrini, E., Ferrari, A.R., Murgia, A., Zuffardi, O., Guerrini, R. (2010) Xp22.3 genomic deletions involving the CDKL5 gene in girls with early onset epileptic encephalopathy. Epilepsia 51:647-654. Pubmed ID: 19780792

Comments:

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.-162-?_*1085del p.Met1? Not Rett syndrome - early onset epileptic encephalopathy Female 19780792, Mei et al (2010) cp201

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