CDKL5 Variant
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.