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: 2014-03-13 05:52:46

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.