CDKL5 Variant
Systematic name: c.587C>T
Protein name: p.Ser196Leu
Alternate name(s): p.S196L
Mutation type: missense
Domain: catalytic domain
Pathogenicity class: likely pathogenic variant
dbSNP ID: rs267608501
First reference: White, R., Ho, G., Schmidt, S., Scheffer, I.E., Fischer, A., Yendle, S.C., Bienvenu, T., Nectoux, J., Ellaway, C.J., Darmanian, A., Tong, X., Cloosterman, D., Bennetts, B., Kalra, V., Fullston, T., Gecz, J., Cox, T.C., Christodoulou, J. (2010) Cyclin-dependent kinase-like 5 (CDKL5) mutation screening in Rett syndrome and related disorders. Twin Res Hum Genet 13:168-178. Pubmed ID: 20397747
Comments: In silico prediction: SIFT = deleterious, MutationTaster = disease-causing, PolyPhen2 = probably damaging, AlignGVGD = pathogenic (C65)
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.587C>T | p.Ser196Leu | Not Rett syndrome - epileptic encephalopathy | Female | 20397747, White et al (2010) | cp143 |
c.587C>T | p.Ser196Leu | Not Rett syndrome - epileptic encephalopathy | Female | 22264704, Moseley et al (2012) | cp498 |
Displaying a total number of 2 proband entries matching this variant.