CDKL5 Proband Entry
Entry ID: cp260
Systematic name: c.3012G>T
Protein name: p.Arg1004Ser
Alternate name(s): p.R1004S
Mutation type: missense
Domain: regulatory C-terminal
Pathogenicity class: likely benign variant
Gender: Female
Phenotype: Not known - unaffected family member
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: rs267608667
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.3012G>T | p.Arg1004Ser | Not Rett syndrome - autism spectrum disorder | Male | 20479760 Piton et al (2011) | cp259 |
Displaying a total number of 1 proband entries.