CDKL5 Proband Entry



Entry ID: cp290

Systematic name: c.1039C>T

Protein name: p.Gln347*

Alternate name(s): p.Q347X

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: rs267608561

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: 8

Comments:

Entry last updated on: 2014-03-13 06:13:10

Similar entries in the proband database

cDNA name Protein name Phenotype Gender Reference Proband ID
c.1039C>T p.Gln347* Rett syndrome - early-onset seizure Female 19362436 Artuso et al (2010) cp461

Displaying a total number of 1 proband entries.