CDKL5 Proband Entry
Entry ID: cp328
Systematic name: c.[145+17A>G;3003C>T;3084G>A]
Protein name: p.=
Alternate name(s): p.[H1001H;T1028T]
Mutation type: combination/multiple mutations
Domain: catalytic domain
Pathogenicity class: benign variant
Gender: Female
Phenotype: Not Rett syndrome - epilepsy, Rett-like
Other mutation:
X-inactivation results: No
Chromosomal abnormality: Not known
Method of testing: CSGE, MECP2 negative
Source of DNA: not certain
Familial testing: No
Familial X-inactivation:
Control screening: No
dbSNP ID:
Source: Maortua, H., Martinez-Bouzas, C., Calvo, M.-T., Domingo, M.-R., Ramos, F., Garcia-Ribes, A., Martinez, M.-J., Lopez-Ariztegui, M.-A., Puente, N., Rubio, I., Tejada, M.-I. (2012) CDKL5 gene status in female patients with epilepsy and Rett-like features: two new mutations in the catalytic domain. BMC Medical Genetics 13:68. Pubmed ID: 22867051
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.[145+17A>G;3003C>T;3084G>A] | p.= | Rett syndrome - not certain | Female | 15499549 Tao et al (2004) | cp5 |
c.[145+17A>G;3003C>T;3084G>A] | p.= | Not known - normal control | Unknown | 15499549 Tao et al (2004) | cp6 |
c.[145+17A>G;3003C>T;3084G>A] | p.= | Not known - normal control | Unknown | 15499549 Tao et al (2004) | cp7 |
c.[145+17A>G;3003C>T;3084G>A] | p.= | Not Rett syndrome - epilepsy, Rett-like | Female | 22867051 Maortua et al (2012) | cp329 |
Displaying a total number of 4 proband entries.