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: 2018-06-05 13:45:42
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 |
c.1039C>T | p.Gln347* | Not Rett syndrome | Female | 25657822 Fehr S et al (2015) | cp514 |
Displaying a total number of 2 proband entries.
Entry ID: cp290
Systematic name: c.1039C>T
Protein name: p.Gln347*
Alternate name(s):
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:
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: 2018-06-05 13:45:42
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 |
c.1039C>T | p.Gln347* | Not Rett syndrome | Female | 25657822 Fehr S et al (2015) | cp514 |
Displaying a total number of 2 proband entries.