CDKL5 Variant

Variant ID: cm61
Systematic name: c.2152G>A
Protein name: p.Val718Met
Alternate name(s): p.V718M
Mutation type: missense
Domain: not specified
Pathogenicity class: likely pathogenic variant
dbSNP ID: rs267608653

First reference: Bahi-Buisson, N., Nectoux, J., Rosas-Vargas, H., Milh, M., Boddaert, N., Girard, B., Cances, C., Ville, D., Afenjar, A., Rio, R., Heron, D., N'Guyen Morel, M.A., Arzimanoglou, A., Philippe, C., Jonveaux, P., Chelly, J., Bienvenu, T. (2008) Key clinical features to identify girls with CDKL5 mutations. Brain 131:2647-2661. Pubmed ID: 18790821

Comments: no parental studies; highly conserved residue; In silico prediction: SIFT = deleterious, MutationTaster = disease-causing, PolyPhen2 = probably damaging, 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.2152G>A p.Val718Met Not Rett syndrome - X-linked infantile spasm syndrome Female 18790821, Bahi-Buisson et al (2008) cp80
c.2152G>A p.Val718Met Not Rett syndrome Male 27599155, Lilles S et al (2016) cp581

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