CDKL5 Variant

Variant ID: cm121
Systematic name: c.1523T>C
Protein name: p.Ile508Thr
Alternate name(s): p.I508T
Mutation type: missense
Domain: not specified
Pathogenicity class: variant of uncertain significance
dbSNP ID: rs201893287

First reference: Piton, A., Gauthier, J., Hamdan, F.F., Lafreniere, R.G., Yang, Y., Henrion, E., Laurent, S., Noreau, A., Thibodeau, P., Karemera, L., Spiegelman, D., Kuku, F., Duguay, J., Destroismaisons, L., Jolivet, P., Cote, M., Lachapelle, K., Diallo, O., Raymond, A., Marineau, C., Champagne, N., Xiong, L., Gaspar, C., Riviere, J.-B., Tarabeux, J., Cossette, P., Krebs, M.-O., Rapoport, J.L., Addington, A., DeLisi, L.E., Mottron, L., Joober, R., Fombonne, E., Drapeau, P., Rouleau, G.A. (2011) Systematic resequencing of X-chromosome synaptic genes in autism spectrum disorder and schizophrenia. Molecular Psychiatry 16:867-880. Pubmed ID: 20479760

Comments: in silico predictions: 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.1523T>C p.Ile508Thr Not Rett syndrome - autism spectrum disorder Male 20479760, Piton et al (2011) cp233
c.1523T>C p.Ile508Thr Unaffected - unaffected family member Female 20479760, Piton et al (2011) cp234

Displaying a total number of 2 proband entries matching this variant.