Proband information
Matching entries in the proband database
No: | Systematic Name | Protein name | Gender | Carrier result | Phenotype | Proband id | Reference |
---|---|---|---|---|---|---|---|
1 | c.27-2A>G | intronic variation | Female | Rett syndrome-Not certain | 1859 | :Bunyan, D.:: | |
2 | c.27-2A>G | intronic variation | Female | Rett syndrome-atypical | 2974 | Screening of MECP2 coding sequence in patients with phenotypes of decreasing likelihood for Rett syndrome; a cohort of 171 cases:Kammoun, F., de Roux, N, Boespflug-Tanguy, O., Vallée, L, seng, R., Tardieu, M., Landrieu, P.:J Med Genet: 15173251 | |
3 | c.27-2A>G | intronic variation | Female | Rett syndrome-classical | 6352 | ::: | |
4 | c.27-2A>G | intronic variation | Female | Rett syndrome-classical | 6351 | ::: |