Proband information
Matching entries in the proband database
No: | Systematic Name | Protein name | Gender | Carrier result | Phenotype | Proband id | Reference |
---|---|---|---|---|---|---|---|
1 | c.469T>A | p.Phe157Ile | Female | Neither parent has variation | Rett syndrome-Not certain | 1622 | :Bunyan, D.:: |
2 | c.469T>A | p.Phe157Ile | Male | de novo | Not Rett synd. | 2795 | Early progressive encephalopathy in boys and MECP2 mutations:Kankirawatana, P., Leonard, H., Ellaway, C., Scurlock, J., Mansour, A., Makris, C.M., Dure, L.S., IV, Friez, M., Lane, J., Kiraly-Borri, C., Fabian, V., Davis, M., Jackson, J., Christodoulou, J., Kaufmann, W.E., Ravine, D., Percy, A.K.:Neurology: 16832102 |
3 | c.469T>A | p.Phe157Ile | Female | de novo | Rett syndrome-classical | 6342 | ::: |