CDKL5 Proband Entry
Entry ID: cp320
Systematic name: c.2995G>A
Protein name: p.Val999Met
Alternate name(s): p.V999M
Mutation type: missense
Domain: regulatory C-terminal
Pathogenicity class: benign variant
Gender: Female
Phenotype: Not known - unaffected family member
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 1/200 (0.5%) of chromosomes
dbSNP ID: rs35693326
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.[2500C>T;2995G>A] | p.Gln834* | Rett syndrome - early seizure | Female | 16813600 Nectoux et al (2006) | cp54 |
c.2995G>A | p.Val999Met | Not known - unaffected family member | Female | 16813600 Nectoux et al (2006) | cp55 |
c.2995G>A | p.Val999Met | Not Rett syndrome - infantile intractable epilepsy | Female | 21775177 Intusoma et al (2011) | cp219 |
c.2995G>A | p.Val999Met | Not Rett syndrome - epilepsy, Rett-like | Female | 22867051 Maortua et al (2012) | cp319 |
c.2995G>A | p.Val999Met | Not known - non-RTT control | Female | 22867051 Maortua et al (2012) | cp321 |
c.2995G>A | p.Val999Met | Not Rett syndrome - developmental delay (no seizures) | Female | 23756444 Diebold et al (2014) | cp433 |
c.2995G>A | p.Val999Met | Not known - unaffected family member | Male | 23756444 Diebold et al (2014) | cp434 |
c.[1767C>T(;)2995G>A] | p.[=(;)Val999Met] | Rett syndrome - atypical (early seizure variant) | Female | 23242510 Das et al (2013) | cp439 |
Displaying a total number of 8 proband entries.