CDKL5 Variant

   CSV explantation text

Variant ID: cm209
Systematic name: c.620G>A
Protein name: p.Gly207Glu
Alternate name(s): p.G207E
Mutation type: missense
Domain: catalytic domain
Pathogenicity class: likely pathogenic variant

First reference: Carvill, G.L., Heavin, S.B., Yendle, S.C., McMahon, J.M., O'Roak, B.J., Cook, J., Khan, A., Dorschner, M.O., Waver, M., Calbert, S., Malone, S., Wallace, G., Stanley, T., Bye, A.M.E., Bleasel, A., Howell, K.B., Kivity, S., Mackay, M.T., Rodriguez-Casero, V., Webster, R., Korczyn, A., Afawi, Z., Zelnick, N., Lerman-Sagie, T., Lev, D., Moller, R.S., Gill, D., Andrade, D.M., Freeman, J.L., Saleir, L.G., Shendure, J., Berkovic, S.F., Scheffer, I.E., Mefford, H.C. (2013) Targeted resequencing in epileptic encephalopathies identified de novo mutations in CHD2 and SYNGAP1. Nature Genetics 45:825-830. Pubmed ID: 23708187

Comments: de novo variant in a female, not reported in dbSNP or ESP6500; in silico predictions: AlignGVGD, SIFT, MutationTaster and Polyphen2 pathogenic

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.620G>A p.Gly207Glu Not Rett syndrome - epileptic encephalopathy Female 23708187, Carvill et al (2013) cp428
c.620G>A p.Gly207Glu Not Rett syndrome - epilepsy Female Directly submitted cp478

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