CDKL5 Proband Entry
Entry ID: cp461
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: Rett syndrome - early-onset seizure
Other mutation:
X-inactivation results: No
Chromosomal abnormality: Not known
Method of testing: DHPLC, not stated
Source of DNA: blood
Familial testing: de novo
Familial X-inactivation:
Control screening: No
dbSNP ID: rs267608561
Source: Artuso, R., Mencarelli, M.A., Polli, R., Sartori, S., Ariani, F., Pollazzon, M., Marozza, A., Cilio, M.R., Specchio, N., Vigevano, F., Vecchi, M., Boniver, C., Dalla Bernardina, B., Parmeggiani, A., Buoni, S., Hayek, G., Mari, F., Renieri, A., Murgia, A. (2010) Early-onset seizure variant of Rett syndrome: definition of the clinical diagnostic criteria. Brain & Development 32:17-24. Pubmed ID: 19362436
Publication ID: Patient 1 (#1567)
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* | Not Rett syndrome - epileptic encephalopathy | Female | 21770923 Liang et al (2011) | cp290 |
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: cp461
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: Rett syndrome - early-onset seizure
Other mutation:
X-inactivation results: No
Chromosomal abnormality: Not known
Method of testing: DHPLC, not stated
Source of DNA: blood
Familial testing: de novo
Familial X-inactivation:
Control screening: No
dbSNP ID:
Source: Artuso, R., Mencarelli, M.A., Polli, R., Sartori, S., Ariani, F., Pollazzon, M., Marozza, A., Cilio, M.R., Specchio, N., Vigevano, F., Vecchi, M., Boniver, C., Dalla Bernardina, B., Parmeggiani, A., Buoni, S., Hayek, G., Mari, F., Renieri, A., Murgia, A. (2010) Early-onset seizure variant of Rett syndrome: definition of the clinical diagnostic criteria. Brain & Development 32:17-24. Pubmed ID: 19362436
Publication ID: Patient 1 (#1567)
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* | Not Rett syndrome - epileptic encephalopathy | Female | 21770923 Liang et al (2011) | cp290 |
c.1039C>T | p.Gln347* | Not Rett syndrome | Female | 25657822 Fehr S et al (2015) | cp514 |
Displaying a total number of 2 proband entries.