Proband information
Matching entries in the proband database
No: | Systematic Name | Protein name | Gender | Carrier result | Phenotype | Proband id | Reference |
---|---|---|---|---|---|---|---|
1 | c.397C>G | p.Arg133Gly | Female | Not Known | 1798 | :Friez, Michael:: | |
2 | c.397C>G | p.Arg133Gly | Female | Rett syndrome-not certain | 3431 | 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 |