CDKL5 Variant



Variant ID: cm142

Systematic name: c.2277-2A>G

Protein name: p.?

Alternate name(s): p.K760?

Mutation type: splicing variant

Domain: not specified

Pathogenicity class: pathogenic variant

dbSNP ID:

First reference: Paine, S.M.L., Munot, P., Charmichael, J., Das, K., Weber, M.A., Prabhakar, P., Jacques, T.S. (2012) The neuropathological consequences of CDKL5 mutation. Neuropathology and Applied Neurobiology 38:744-747. Pubmed ID: 22812903

Comments: disrupts splice site but effect on transcript uncertain

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.2277-2A>G p.? Not Rett syndrome - infantile-onset seizure Female 22812903, Paine et al (2012) cp299

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