CDKL5 Variant



Variant ID: cm37

Systematic name: c.2378T>C

Protein name: p.Val793Ala

Alternate name(s): p.V793A

Mutation type: missense

Domain: regulatory C-terminal

Pathogenicity class: variant of uncertain significance

dbSNP ID: rs62643617

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: not a conserved amino acid residue, sidechain effects likely to be conservative; no parental DNA available for testing; In silico prediction: SIFT = deleterious, MutationTaster = disease-causing, PolyPhen2 = possibly damaging, AlignGVGD = benign (C0)

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.2378T>C p.Val793Ala Not Rett syndrome - not certain Female 16611748, Archer et al (2006) cp50

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