CDKL5 Proband Entry
Entry ID: cp313
Systematic name: c.-426C>G
Protein name: p.=
Alternate name(s): 5'UTR variation
Mutation type: 5'UTR variation
Domain: 5'UTR
Pathogenicity class: benign variant
Gender: Female
Phenotype: Not known - non-RTT control
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: found in 5/200 (2.5%) of chromosomes
dbSNP ID: rs184407021
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.-426C>G | p.= | Not Rett syndrome - epilepsy, Rett-like | Female | 22867051 Maortua et al (2012) | cp312 |
c.-426C>G | p.= | Not known - non-RTT control | Female | 22867051 Maortua et al (2012) | cp314 |
c.-426C>G | p.= | Not known - non-RTT control | Female | 22867051 Maortua et al (2012) | cp315 |
c.-426C>G | p.= | Not known - non-RTT control | Female | 22867051 Maortua et al (2012) | cp316 |
c.-426C>G | p.= | Not known - non-RTT control | Female | 22867051 Maortua et al (2012) | cp317 |
Displaying a total number of 5 proband entries.