CDKL5 Variant



Variant ID: cm34

Systematic name: c.678_691conNM_003159.2:c.673_683inv

Protein name: p.Gly228_Pro231delinsAlaProSer

Alternate name(s): p.G228_P231delinsAPS

Mutation type: in-frame insertion and/or deletion

Domain: catalytic domain

Pathogenicity class: variant of uncertain significance

dbSNP ID:

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: this mutation is the deletion of c.678_691, replaced with the inversion of c.673_683; open-reading frame stays the same

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.678_691conNM_003159.2:c.673_683inv p.Gly228_Pro231delinsAlaProSer Not Rett syndrome - X-linked West syndrome/autism Female 16611748, Archer et al (2006) cp47

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