CDKL5 Proband Entry



Entry ID: cp255

Systematic name: c.3003C>T

Protein name: p.=

Alternate name(s): p.H1001H

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: rs36022183

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

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c.3003C>T p.= Not Rett syndrome - autism spectrum disorder or schizophrenia Unknown 20479760 Piton et al (2011) cp256
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[c.145+17A>G;c.146-98A>G;c.404-57T>C;c.2153-47_2153-38del10; c.3003C>T;c.3084G>A p.= Not Rett syndrome - West syndrome Male 27187038 et al () cp501

Displaying a total number of 15 proband entries.