CDKL5 Variant

Variant ID: cm208
Systematic name: c.1925delT
Protein name: p.Leu642Argfs*16
Alternate name(s): p.L642fs
Mutation type: frameshift insertion and/or deletion
Domain: not specified
Pathogenicity class: 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: seen in two male patients, one de novo; not in dbSNP

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.1925delT p.Leu642Argfs*16 Not Rett syndrome - infantile spasms Male 23708187, Carvill et al (2013) cp426
c.1925delT p.Leu642Argfs*16 Not Rett syndrome - early-onset epileptic encephalopathy Male 23708187, Carvill et al (2013) cp429

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