Variant information


Systematic Name c.942C>T
Protein name p.Ile314Ile
Mutation type silent
Domain C-term
Pathogenicity Silent polymorphism

Proband information


Source of DNA not known
Detection direct
Extent exons 2-4
Number of chromosomes checked
Carrier status checked N
Carrier result
Other mutations NK
X-inactivation results
X-inactivation relatives
Gender Male
Sporadic/Familial not known
Phenotype-class Not Rett synd.-mental retardation
Reference Low frequency of MECP2 mutations in mentally retarded males:Yntema HG, Kleefstra T, Oudakker AR, Romein T, de Vries BBA, Nillesen W, Sistermans EA, Brunner HG, Hamel BCJ, van Bokhoven H:European Journal of Human Genetics: 12111644

Matching entries in the proband database


No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id References
1 c.942C>T p.Ile314Ile silent C-term Silent polymorphism Male Not Rett synd. 3027 Low frequency of MECP2 mutations in mentally retarded males:Yntema HG, Kleefstra T, Oudakker AR, Romein T, de Vries BBA, Nillesen W, Sistermans EA, Brunner HG, Hamel BCJ, van Bokhoven H:European Journal of Human Genetics: 12111644
2 c.942C>T p.Ile314Ile silent C-term Silent polymorphism Unknown Not Rett synd. 4617 Systematic sequencing of X-chromosome synaptic genes in autism spectrum disorder and schizophrenia:Piton, A., Gauthier, J., Hamdan, F.F., Lafreniere, R.G., Yang, Y., Henrion, E., Laurent, S., Noreau, A., Thbodeau, 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.:Molecular Psychiatry: 20479760