CDKL5 Variant

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Variant ID: cm205
Systematic name: c.433C>T
Protein name: p.His145Tyr
Alternate name(s): p.H145Y
Mutation type: missense
Domain: serine-threonine kinase site
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: identified in male, inherited from unaffected mother, possibly X-linked in males (or homozygous females) only, not seen in dbSNP or ESP6500; in silico predictions: alignGVGD benign, SIFT deleterious, MutationTaster pathogenic, PolyPhen2 benign

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.433C>T p.His145Tyr Not Rett syndrome - epileptic encephalopathy Male 23708187, Carvill et al (2013) cp423
c.433C>T p.His145Tyr Unaffected - unaffected family member Female 23708187, Carvill et al (2013) cp432

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