CDKL5 Variant

   CSV explantation text

Variant ID: cm78
Systematic name: c.2767C>T
Protein name: p.Arg923Cys
Alternate name(s): p.R923C
Mutation type: missense
Domain: regulatory C-terminal
Pathogenicity class: variant of uncertain significance
dbSNP ID: rs267608664

First reference: Russo, S., Marchi, M., Cogliati, F., Bonati, M.T., Pintaudi, M.,Veneselli, E., Saletti, V., Balestrini, M., Ben-Zeev, B., Larizza, L. (2009) Novel mutations in the CDKL5 gene, predicted effects and associated phenotypes. Neurogenetics 10:241-250. Pubmed ID: 19241098

Comments: paper ambiguous as to carrier status; In silico prediction: SIFT = deleterious, MutationTaster = polymorphism, PolyPhen2 = benign, AlignGVGD = benign (C0)

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.2767C>T p.Arg923Cys Not known Unknown 19241098, Russo et al (2009) cp124

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