CDKL5 Proband Entry
Entry ID: cp307
Systematic name: c.2389G>A
Protein name: p.Asp797Asn
Alternate name(s): p.D797N
Mutation type: missense
Domain: regulatory C-terminal
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 6/200 (3%) of chromosomes
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.2389G>A | p.Asp797Asn | Not Rett syndrome - epilepsy, Rett-like | Female | 22867051 Maortua et al (2012) | cp304 |
c.2389G>A | p.Asp797Asn | Not known - unaffected family member | Male | 22867051 Maortua et al (2012) | cp305 |
c.2389G>A | p.Asp797Asn | Not known - non-RTT control | Female | 22867051 Maortua et al (2012) | cp306 |
c.2389G>A | p.Asp797Asn | Not known - non-RTT control | Female | 22867051 Maortua et al (2012) | cp308 |
c.2389G>A | p.Asp797Asn | Not known - non-RTT control | Female | 22867051 Maortua et al (2012) | cp309 |
c.2389G>A | p.Asp797Asn | Not known - non-RTT control | Female | 22867051 Maortua et al (2012) | cp310 |
c.2389G>A | p.Asp797Asn | Not known - non-RTT control | Female | 22867051 Maortua et al (2012) | cp311 |
c.2389G>A | p.Asp797Asn | Rett syndrome - not certain | Female | Roche Martinez et al (2012) | cp396 |
c.2389G>A | p.Asp797Asn | Not known - non-Rett syndrome control | Female | Roche Martinez et al (2012) | cp397 |
Displaying a total number of 9 proband entries.