Proband information
Proband id | 3432 |
---|---|
Systematic Name (NM_004992.3:) |
c.398G>A |
Protein name (NP_004983) |
p.Arg133His |
Alternate systematic Name (NM_001110792.1:) |
c.434G>A |
Alternate Protein name (NP_001104262) |
p.(Arg145His) |
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.153296881C>T |
Mutation type | missense |
Domain | MBD |
Pathogenicity | Unknown |
Evidence of Pathogenicity | |
Detection | SSCP, direct |
Extent | exons 2-4 |
Source of DNA | blood |
Carrier | |
Carrier result | |
Other mutations | NK |
X-inactivation results | |
X-inactivation relatives | |
Gender | Female |
Sporadic/Familial | not known |
Phenotype-class | Rett syndrome-not certain |
Reference | Spectrum of MECP2 mutations in Rett syndrome:Bienvenu T, Villard L, de Roux N, Bourdon V, Fontes M, Beldjord C, Tardieu M, Jonveaux P, Chelly J:Genetic testing: 12180070 |
Matching entries in the proband database
No: | Systematic Name | Protein name | Gender | Carrier result | Phenotype | Proband id | Reference |
---|---|---|---|---|---|---|---|
1 | c.398G>A | p.Arg133His | Female | Rett syndrome-Not certain | 29 | MeCP2 mutations in children with and without the phenotype of Rett Syndrome:Hoffbuhr, K., Devaney, J. M., LaFleur, B., Sirianni, N., Scacheri, C., Giron, J., Schuette, J., Innis, J., Marino, M., Philippart, M., Narayanan, V., Umansky, R., Kronn, D., Hoffman, E. P., and Naidu, S.:Neurology: 11402105 | |
2 | c.398G>A | p.Arg133His | Female | Mother is not carrier, Father is not carrier | Rett syndrome-Atypical | 433 | ::: |
3 | c.398G>A | p.Arg133His | Female | Rett syndrome-Classical | 2226 | :Cardiff, UK:: | |
4 | c.398G>A | p.Arg133His | Female | Rett syndrome-not certain | 3111 | Spectrum and distribution of MECP2 mutations in 424 Rett syndrome patients: a molecular update:Philippe C, Villard L, de Roux N, Raynaud M, Bonnefond JP, Pasquier L, Lesca G, Mancini J, Jonveaux P, Moncla A, Chelly J, Bienvenu T:European Journal of Medical Genetics: 16473305 | |
5 | c.398G>A | p.Arg133His | Female | Rett syndrome-not certain | 3432 | Spectrum of MECP2 mutations in Rett syndrome:Bienvenu T, Villard L, de Roux N, Bourdon V, Fontes M, Beldjord C, Tardieu M, Jonveaux P, Chelly J:Genetic testing: 12180070 | |
6 | c.398G>A | p.Arg133His | Female | de novo | Rett syndrome-not certain | 3536 | MECP2 and CDKL5 gene mutation analysis in Chinese patients with Rett syndrome:Li, M.-R., Pan, H., Bao, X.-H., Zhang, Y.-Z., Wu, X.-R.:Journal of Human Genetics: 17089071 |
7 | c.398G>A | p.Arg133His | Female | de novo | Rett syndrome-not certain | 3537 | MECP2 and CDKL5 gene mutation analysis in Chinese patients with Rett syndrome:Li, M.-R., Pan, H., Bao, X.-H., Zhang, Y.-Z., Wu, X.-R.:Journal of Human Genetics: 17089071 |
8 | c.398G>A | p.Arg133His | Female | de novo | Rett syndrome-atypical | 5112 | ::: |