CDKL5 Variant

Variant ID: cm210
Systematic name: c.1741C>T
Protein name: p.His581Tyr
Alternate name(s): p.H581Y
Mutation type: missense
Domain: not specified
Pathogenicity class: variant of uncertain significance
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: not reported in dbSNP or ESP6500; in silico predictions: AlignGVGD benign, Polyphen2 possibly damaging, SIFT and MutationTaster 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.1741C>T p.His581Tyr Not Rett syndrome - uncertain Unknown 23708187, Carvill et al (2013) cp430

Displaying a total number of 1 proband entries matching this variant.