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
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: 2018-06-05 14:40:30

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.