CDKL5 Proband Entry



Entry ID: cp264

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: 2014-03-13 06:12:16

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.[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.