CDKL5 Variant



Variant ID: cm96

Systematic name: c.2504delC

Protein name: p.Pro835Hisfs*2

Alternate name(s): p.P835fs

Mutation type: frameshift insertion and/or deletion

Domain: regulatory C-terminal

Pathogenicity class: pathogenic variant

dbSNP ID: rs267608660

First reference: White, R., Ho, G., Schmidt, S., Scheffer, I.E., Fischer, A., Yendle, S.C., Bienvenu, T., Nectoux, J., Ellaway, C.J., Darmanian, A., Tong, X., Cloosterman, D., Bennetts, B., Kalra, V., Fullston, T., Gecz, J., Cox, T.C., Christodoulou, J. (2010) Cyclin-dependent kinase-like 5 (CDKL5) mutation screening in Rett syndrome and related disorders. Twin Res Hum Genet 13:168-178. Pubmed ID: 20397747

Comments:

Variant last updated on: 2014-03-13 05:45:38

Matching entries in the proband database

cDNA name Protein name Phenotype Gender Reference Proband ID
c.2504delC p.Pro835Hisfs*2 Not Rett syndrome - epileptic encephalopathy Female 20397747, White et al (2010) cp146

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