CDKL5 Variant
Systematic name: c.1400A>C
Protein name: p.His467Pro
Alternate name(s): p.H467P
Mutation type: missense
Domain: not specified
Pathogenicity class: variant of uncertain significance
dbSNP ID: rs267608631
First reference: Liang, J.-S., Shimojima, K., Takayama, R., Natsume, J., Shichiji, M., Hirasawa, K., Kimai, K., Okanishi, T., Mizuno, S., Okumura, A., Sugawara, M., Ito, T., Ikeda, H., Takahashi, Y., Oguni, H., Imai, K., Osawa, M., Yamamoto, T. (2011) CDKL5 alterations lead to early epileptic encephalopathy in both genders. Epilepsia 52:1835-1842. Pubmed ID: 21770923
Comments: de novo, but a nonsense mutation also found in same patient; in silico predictions: SIFT = deleterious, MutationTaster = disease causing, PolyPhen 2 = 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.[1238C>G(;)1400A>C] | p.[Ser413*(;)His467Pro] | Not Rett syndrome - epileptic encephalopathy | Female | 21770923, Liang et al (2011) | cp292 |
Displaying a total number of 1 proband entries matching this variant.