CDKL5 Variant
Variant ID: cm101
Systematic name: c.2066delC
Protein name: p.Pro689Hisfs*95
Alternate name(s): p.P689fs
Mutation type: frameshift insertion and/or deletion
Domain: not specified
Pathogenicity class: pathogenic variant
dbSNP ID: rs267608651
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: 2018-06-05 14:40:30
Matching entries in the proband database
cDNA name | Protein name | Phenotype | Gender | Reference | Proband ID |
---|---|---|---|---|---|
c.2066delC | p.Pro689Hisfs*95 | Not Rett syndrome - early onset epileptic encephalopathy | Female | 19780792, Mei et al (2010) | cp197 |
Displaying a total number of 1 proband entries matching this variant.