Proband information
Proband id | 930 |
---|---|
Systematic Name (NM_004992.3:) |
c.592A>T |
Protein name (NP_004983) |
p.Arg198* |
Alternate systematic Name (NM_001110792.1:) |
c.628A>T |
Alternate Protein name (NP_001104262) |
p.(Arg210*) |
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.153296687T>A |
Mutation type | Nonsense |
Domain | Inter-domain region |
Pathogenicity | Mutation associated with disease |
Evidence of Pathogenicity | |
Detection | |
Extent | Exons 2-4 |
Source of DNA | |
Carrier | Y |
Carrier result | Neither parent has variation |
Other mutations | NK |
X-inactivation results | |
X-inactivation relatives | |
Gender | Female |
Sporadic/Familial | sporadic |
Phenotype-class | Rett syndrome-Classical |
Reference | MECP2 mutations account for most cases of typical forms of Rett syndrome:Bienvenu, Thierry, Carrié, Alain, de Roux, Nicolas, Vinet, Marie-Claude, Jonveaux, Philippe, Couvert, Philippe, Villard, Laurent, Arzimanoglou, Alexis, Beldjord, Cherif, Fontes, Michel, Tardieu, Marc and Chelly, Jamel:Human Molecular Genetics: 10814719 |
Matching entries in the proband database
No: | Systematic Name | Protein name | Gender | Carrier result | Phenotype | Proband id | Reference |
---|---|---|---|---|---|---|---|
1 | c.592A>T | p.Arg198* | Female | Neither parent has variation | Rett syndrome-Classical | 930 | MECP2 mutations account for most cases of typical forms of Rett syndrome:Bienvenu, Thierry, Carrié, Alain, de Roux, Nicolas, Vinet, Marie-Claude, Jonveaux, Philippe, Couvert, Philippe, Villard, Laurent, Arzimanoglou, Alexis, Beldjord, Cherif, Fontes, Michel, Tardieu, Marc and Chelly, Jamel:Human Molecular Genetics: 10814719 |
2 | c.592A>T | p.Arg198* | Female | Rett syndrome-not certain | 3200 | 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 |