CDKL5 Proband Entry

Entry ID: cp293

Systematic name: c.1675C>T

Protein name: p.Arg559*

Alternate name(s): p.R559X

Mutation type: nonsense

Domain: not specified

Pathogenicity class: pathogenic variant

Gender: Female

Phenotype: Not Rett syndrome - epileptic encephalopathy

Other mutation:

X-inactivation results: No

Chromosomal abnormality: No

Method of testing: direct, array CGH, CDKL5

Source of DNA: blood

Familial testing: No

Familial X-inactivation:

Control screening: not found in 150/150 chromosomes

dbSNP ID: rs267608395

Source: 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

Publication ID: 11


Entry last updated on: 2018-06-05 13:45:42

Similar entries in the proband database

cDNA name Protein name Phenotype Gender Reference Proband ID
c.[1675C>T];[=] p.[Arg559*];[=] Rett syndrome - early-onset seizures Male 19161156 Sartori et al (2009) cp137
c.1675C>T p.Arg559* Not known Female Directly submitted cp466

Displaying a total number of 2 proband entries.