CDKL5 Variant



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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: 2014-03-13 05:41:08

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.