Proband information
Proband id | 318 |
---|---|
Systematic Name (NM_004992.3:) |
c.904C>G |
Protein name (NP_004983) |
p.Pro302Ala |
Alternate systematic Name (NM_001110792.1:) |
c.940C>G |
Alternate Protein name (NP_001104262) |
p.(Pro314Ala) |
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.153296375G>C |
Mutation type | Missense |
Domain | TRD |
Pathogenicity | Unknown |
Evidence of Pathogenicity | |
Detection | |
Extent | |
Source of DNA | |
Carrier | |
Carrier result | |
Other mutations | |
X-inactivation results | |
X-inactivation relatives | |
Gender | Female |
Sporadic/Familial | |
Phenotype-class | Rett syndrome-Classical |
Reference | MECP2 gene analysis in classical Rett syndrome and in patients with Rett-like features:Auranen, M., Vanhala, MD, Vosman, M., Levander, M., Varilo, T., Hietala, M., Riikonen, R., Peltonen, L., Järvelä, I.:Neurology: 11245712 |
Matching entries in the proband database
No: | Systematic Name | Protein name | Gender | Carrier result | Phenotype | Proband id | Reference |
---|---|---|---|---|---|---|---|
1 | c.904C>G | p.Pro302Ala | Female | Variation not found in parents | Rett syndrome-Preserved speech | 120 | Rett syndrome: analysis of MeCP2 and clinical characterization of 31 patients:Huppke, P., Laccone, F., Krämer, N., Engel, W., Hanefeld, F.:Human Molecular Genetics: 10814718 |
2 | c.904C>G | p.Pro302Ala | Female | Rett syndrome-Classical | 318 | MECP2 gene analysis in classical Rett syndrome and in patients with Rett-like features:Auranen, M., Vanhala, MD, Vosman, M., Levander, M., Varilo, T., Hietala, M., Riikonen, R., Peltonen, L., Järvelä, I.:Neurology: 11245712 | |
3 | c.904C>G | p.Pro302Ala | Female | Rett syndrome-not certain | 3080 | Spectrum and distribution of MECP2 mutations in 64 Italian Rett syndrome girls: tentative genotype/phenotype correlation:Giunti L, Pelagatti S, Lazzerini V, Guarducci S, Lapi E, Coviello S, Cecconi A, Ombroni L, Andreucci E, Sani I, Brusaferri A, Lasagni A, Ricotti G, Giometto B, Nicolao P, Gasparini P, Granatiero M, Giovannucci Uzielli ML:Brain & Development: 11738883 | |
4 | c.904C>G | p.Pro302Ala | Female | Rett syndrome-not certain | 3140 | 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 |