CDKL5 Proband Entry
Entry ID: cp261
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: Unknown
Phenotype: Not Rett syndrome - autism spectrum disorder or schizophrenia
Other mutation:
X-inactivation results: No
Chromosomal abnormality: Not known
Method of testing: direct, not known
Source of DNA: blood, lymphoblastoid cell lines
Familial testing: No
Familial X-inactivation:
Control screening: No
dbSNP ID: rs139155110
Source: Piton, A., Gauthier, J., Hamdan, F.F., Lafreniere, R.G., Yang, Y., Henrion, E., Laurent, S., Noreau, A., Thibodeau, P., Karemera, L., Spiegelman, D., Kuku, F., Duguay, J., Destroismaisons, L., Jolivet, P., Cote, M., Lachapelle, K., Diallo, O., Raymond, A., Marineau, C., Champagne, N., Xiong, L., Gaspar, C., Riviere, J.-B., Tarabeux, J., Cossette, P., Krebs, M.-O., Rapoport, J.L., Addington, A., DeLisi, L.E., Mottron, L., Joober, R., Fombonne, E., Drapeau, P., Rouleau, G.A. (2011) Systematic resequencing of X-chromosome synaptic genes in autism spectrum disorder and schizophrenia. Molecular Psychiatry 16:867-880. Pubmed ID: 20479760
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.[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) | 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.3084G>A | p.= | Not known - unaffected family member | Female | Roche Martinez et al (2012) | cp404 |
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.