CDKL5 Variant

   CSV explantation text

Variant ID: cm200
Systematic name: c.2494C>T
Protein name: p.Gln832*
Alternate name(s): p.Q832X
Mutation type: nonsense
Domain: regulatory C-terminal
Pathogenicity class: pathogenic variant
dbSNP ID: rs17857094

First reference: Veeramah, K.R., Johnstone, L., Karafet, T.M., Wolf, D., Sprissler, R., Salogiannis, J., Barth-Maron, A., Greenberg, M.E., Stuhlmann, T., Weinert, S., Jentsch, T.J., Pazzi, M., Restifo, L.L., Talwar, D., Erickson, R.P., Hammer, M.F. (2013) Exome sequencing reveals new causal mutations in children with epileptic encephalopathies. Epilepsia 54:1270-1281. Pubmed ID: 23647072

Comments: truncation causing loss of C-terminus including potential nuclear export signal, also not in 1000 genomes or ESP

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.2494C>T p.Gln832* Not Rett syndrome - ISSX Female 23647072, Veeramah et al (2013) cp417

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