Variant information
Systematic Name (NM_004992.3:) |
c.996C>T |
---|---|
Protein name (NP_004983) |
p.(=) |
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 |
View proband information
No: | Systematic Name | Protein name | Gender | Phenotype | Proband id | References | View |
---|---|---|---|---|---|---|---|
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 | View details |
2 | c.996C>T | p.Ser332Ser | Female | 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 | View details |
3 | c.996C>T | p.(=) | Female | 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 | View details |