RettBASE: RettSyndrome.org Variation Database

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CDKL5 Variant

Variant ID: cm207
Systematic name: c.2564C>G
Protein name: p.Ser855*
Alternate name(s): p.S855X
Mutation type: nonsense
Domain: regulatory C-terminal
Pathogenicity class: pathogenic variant
dbSNP ID:

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:

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.2564C>G	p.Ser855*	Not Rett syndrome - infantile spasms	Female	23708187, Carvill et al (2013)	cp425
c.2564C>G	p.Ser855*	Not Rett syndrome - early onset seizures	Female	Directly submitted	cp475

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