CDKL5 Variant

Variant ID: cm38

Systematic name: c.978-49_978-41del9

Protein name: p.?

Alternate name(s): intronic variation (IVS11-49_-41del9)

Mutation type: intronic variant

Domain: not specified

Pathogenicity class: likely benign variant

dbSNP ID: rs267608554

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: unlikely to be pathogenic, not predicted to change splicing; however, there is no empirical evidence for this

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.978-49_978-41del9 p.? Not Rett syndrome - not certain Female 16611748, Archer et al (2006) cp51

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