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: 2014-03-13 05:51:47

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.