Proband information


Proband id 4614
Systematic Name
(NM_004992.3:)		 c.996C>T
Protein name
(NP_004983)		 p.Ser332Ser
Alternate systematic Name
(NM_001110792.1:)		 c.1032C>T
Alternate Protein name
(NP_001104262)		 p.(=)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.153296283G>A
Mutation type silent
Domain C-term
Pathogenicity Silent polymorphism
Evidence of Pathogenicity 176 chromosomes tested and not found in 176 chromosomes
Detection direct
Extent
Source of DNA blood, lymphoblastoid cell lin
Carrier
Carrier result
Other mutations NK
X-inactivation results
X-inactivation relatives
Gender Unknown
Sporadic/Familial
Phenotype-class Not Rett synd.-autism spectrum disorder
Reference 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

Matching entries in the proband database


No: Systematic Name Protein name Gender Carrier result Phenotype Proband id Reference
1 c.996C>T p.Ser332Ser Unknown Not Rett synd. 4614 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
2 c.996C>T p.Ser332Ser Female de novo Rett syndrome-atypical 4804 Novel mutations in the C-terminal region of the MECP2 gene in Tunisian Rett syndrome patients:Fendri-Kriaa, N., Rouissi, A., Ghorbel, R., Mkaouar-Rebai, E., Belguith, N., Gouider-Khouja, N., Fakhfakh F.:Journal of Child Neurology: 21940684
3 c.996C>T p.(=) Female mother - heterozygous, father - negative Not Rett synd. 6862 MECP2 mutations in Czech patients with Rett syndrome and Rett-like phenotypes:novel mutations,genotype–phenotype correlations and validation of high-resolution melting analysis for mutation scanning:Daniela Zahorakova,Petra Lelkova,Vladimir Gregor,Martin Magner,Jiri Zeman and Pavel Martasek:Journal of Human Genetics: 26984561