CDKL5 Variant

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Variant ID: cm32
Systematic name: c.2376+1G>A
Protein name: p.?
Alternate name(s): intronic variation (IVS16+1G>A)
Mutation type: splicing variant
Domain: regulatory C-terminal
Pathogenicity class: pathogenic variant
dbSNP ID: rs267608656

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 16 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.2376+1G>A p.? Not Rett syndrome - epileptic encephalopathy Female 16611748, Archer et al (2006) cp45

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