CDKL5 Variant

Variant ID: cm131

Systematic name: c.39delT

Protein name: p.Phe13Leufs*7

Alternate name(s): p.F13LfsX7

Mutation type: frameshift insertion and/or deletion

Domain: N-terminal

Pathogenicity class: pathogenic variant

dbSNP ID: rs267608415

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


Variant last updated on: 2014-03-13 05:51:47

Matching entries in the proband database

cDNA name Protein name Phenotype Gender Reference Proband ID
c.39delT p.Phe13Leufs*7 Not Rett syndrome - epileptic encephalopathy Female 21770923, Liang et al (2011) cp287

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