CDKL5 Proband Entry
Entry ID: cp89
Systematic name: c.872G>A
Protein name: p.Cys291Tyr
Alternate name(s): p.C291Y
Mutation type: missense
Domain: catalytic domain
Pathogenicity class: variant of uncertain significance
Gender: Male
Phenotype: Not Rett syndrome - Severe encephalopathy and early-onset seizures
Other mutation:
X-inactivation results: Not applicable
Chromosomal abnormality: No
Method of testing: DHPLC, all exons
Source of DNA: blood
Familial testing: No
Familial X-inactivation:
Control screening: not found in 400/400 chromosomes
dbSNP ID: rs267606714
Source: Elia, M., Falco, M., Ferri, R., Spalletta, A., Bottitta, M., Calabrese, G., Carotenuto, M., Musumeci, S.A., Lo Giudice, M., Fichera, M. (2008) CDKL5 mutations in boys with severe encephalopathy and early-onset intractable epilepsy. Neurology 71:997-999. Pubmed ID: 18809835
Publication ID:
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.872G>A | p.Cys291Tyr | Not Rett syndrome | Female | 25657822 Fehr S et al (2015) | cp577 |
Displaying a total number of 1 proband entries.
Entry ID: cp89
Systematic name: c.872G>A
Protein name: p.Cys291Tyr
Alternate name(s):
Mutation type: missense
Domain: catalytic domain
Pathogenicity class: pathogenic variant
Gender: Male
Phenotype: Not Rett syndrome - Severe encephalopathy and early-onset seizures
Other mutation:
X-inactivation results: Not applicable
Chromosomal abnormality: No
Method of testing: DHPLC, all exons
Source of DNA: blood
Familial testing: No
Familial X-inactivation:
Control screening: not found in 400/400 chromosomes
dbSNP ID:
Source: Elia, M., Falco, M., Ferri, R., Spalletta, A., Bottitta, M., Calabrese, G., Carotenuto, M., Musumeci, S.A., Lo Giudice, M., Fichera, M. (2008) CDKL5 mutations in boys with severe encephalopathy and early-onset intractable epilepsy. Neurology 71:997-999. Pubmed ID: 18809835
Publication ID:
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.872G>A | p.Cys291Tyr | Not Rett syndrome | Female | 25657822 Fehr S et al (2015) | cp577 |
Displaying a total number of 1 proband entries.