Proband information
Matching entries in the proband database
No: | Systematic Name | Protein name | Gender | Carrier result | Phenotype | Proband id | Reference |
---|---|---|---|---|---|---|---|
1 | c.*14G>A | 3'UTR variation | Female | Rett syndrome-not certain | 5226 | MECP2 gene study in a large cohort testing of 240 female patients and 861 healthy controls (519 females and 342 males):Maortua, H., Martinez-Bouzas, C., Garcia-Ribes, A., Martinez, M.-J., Guillen, E., Domingo, M.-R., Calvo, M.-T., Guitart, M., Gabau, E., Botella, M.-P., Gener, B., Rubio, I., Lopez-Ariztegui, M.-A., Tejada, M.-I.:J Mol Diagn: 23810759 | |
2 | c.*14G>A | 3'UTR variation | Female | in daughter with forme fruste | Not Rett synd. | 6666 | ::: |
3 | c.*14G>A | 3'UTR variation | Female | mother has | Rett syndrome-forme fruste | 6665 | ::: |