CDKL5 Variant

   CSV explantation text

Variant ID: cm133
Systematic name: c.904C>T
Protein name: p.Leu302Phe
Alternate name(s): p.L302F
Mutation type: missense
Domain: not specified
Pathogenicity class: variant of uncertain significance
dbSNP ID: rs267608547

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: In silico prediction: SIFT = tolerated, MutationTaster = disease-causing, PolyPhen2 = probably damaging, AlignGVGD = benign (C0), no parental screening results

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.904C>T p.Leu302Phe Not Rett syndrome - epileptic encephalopathy Female 21770923, Liang et al (2011) cp289

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