CDKL5 Variant



   CSV explantation text


Variant ID: cm31

Systematic name: c.978-2A>G

Protein name: p.?

Alternate name(s): intronic variation (IVS11-2A>G)

Mutation type: splicing variant

Domain: not specified

Pathogenicity class: pathogenic variant

dbSNP ID: rs267608553

First reference: Archer, H.L., Evans, J., Edwards, S., Colley, J., Newbury-Ecob, R., O'Callaghan, F., Huyton, M., O'Regan, M., Tolmie, J., Sampson, J., Clarke, A., Osborne, J. (2006) CDKL5 mutations cause infantile spasms, early onset seizures, and severe mental retardation in female patients. J Med Genet 43:729-734. Pubmed ID: 16611748

Comments: predicted to cause exon 12 skipping

Variant last updated on: 2014-03-13 05:41:08

Matching entries in the proband database

cDNA name Protein name Phenotype Gender Reference Proband ID
c.978-2A>G p.? Not Rett syndrome - epileptic encephalopathy Female 16611748, Archer et al (2006) cp44

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