Proband information
Matching entries in the proband database
No: | Systematic Name | Protein name | Gender | Carrier result | Phenotype | Proband id | Reference |
---|---|---|---|---|---|---|---|
1 | c.730C>T | p.Gln244* | Female | Rett syndrome-Not certain | 31 | 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.730C>T | p.Gln244* | Female | Rett syndrome-Classical | 2192 | :Cardiff, UK:: | |
3 | c.730C>T | p.Gln244* | Female | Rett syndrome-Classical | 2193 | :Cardiff, UK:: | |
4 | c.730C>T | p.Gln244* | Female | Rett syndrome-classical | 6583 | ::: |