CDKL5 Proband Entry
Entry ID: cp404
Systematic name: c.3084G>A
Protein name: p.=
Alternate name(s): p.T1028T
Mutation type: silent
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: direct, MECP2 negative, CDKL5 Ex1-22
Source of DNA: not stated
Familial testing: No
Familial X-inactivation:
Control screening: No
dbSNP ID: rs139155110
Source: Roche Martinez, A., Armstrong, J., Gerotina, E., Fons, C., Campistol, J., Pineda, M. (2012) CDKL5 in different atypical Rett syndrome variants: description of the first eight patients from Spain. Journal of Pediatric Epilepsy 1:27-35
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.[404-53T>C;3003C>T;3084G>A] | p.= | Not known | Female | 19241098 Russo et al (2009) | cp127 |
c.[404-53T>C;3003C>T;3084G>A] | p.= | Not known - unaffected family member | Female | 19241098 Russo et al (2009) | cp128 |
c.3084G>A | p.= | Not Rett syndrome - autism spectrum disorder or schizophrenia | Unknown | 20479760 Piton et al (2011) | cp261 |
c.3084G>A | p.= | Not Rett syndrome - autism spectrum disorder or schizophrenia | Unknown | 20479760 Piton et al (2011) | cp262 |
c.3084G>A | p.= | Not Rett syndrome - autism spectrum disorder or schizophrenia | Unknown | 20479760 Piton et al (2011) | cp263 |
c.3084G>A | p.= | Not Rett syndrome - autism spectrum disorder or schizophrenia | Unknown | 20479760 Piton et al (2011) | cp264 |
c.[3003C>T;3084G>A] | p.= | Rett syndrome - not certain | Female | 21160487 Hadzsiev et al (2011) | cp279 |
c.[145+17A>G;3003C>T;3084G>A] | p.= | Not Rett syndrome - epilepsy, Rett-like | Female | 22867051 Maortua et al (2012) | cp328 |
c.[145+17A>G;3003C>T;3084G>A] | p.= | Not Rett syndrome - epilepsy, Rett-like | Female | 22867051 Maortua et al (2012) | cp329 |
c.3084G>A | p.= | Rett syndrome - not certain | Female | Roche Martinez et al (2012) | cp401 |
c.[3003C>T;3084G>A] | p.= | Not Rett syndrome - developmental delay and seizures | Female | Directly submitted | cp479 |
Displaying a total number of 14 proband entries.