CDKL5 Variant

   CSV explantation text

Variant ID: cm30
Systematic name: c.404-1G>T
Protein name: p.?
Alternate name(s): intronic variation (IVS6-1G>T)
Mutation type: splicing variant
Domain: serine-threonine kinase site
Pathogenicity class: pathogenic variant
dbSNP ID: rs267608474

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 7 skipping

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.404-1G>T p.? Not Rett syndrome - West syndrome Female 16611748, Archer et al (2006) cp43

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