Proband information
Matching entries in the proband database
No: | Systematic Name | Protein name | Gender | Carrier result | Phenotype | Proband id | Reference |
---|---|---|---|---|---|---|---|
1 | c.168C>T | p.Pro56Pro | Unknown | Mother is not carrier | Rett syndrome-Not certain | 147 | Mutational analysis of the Mecp2 gene in Japanese patients with Rett syndrome:Amano, Kenji, Nomura, Yoshiko, Segawa, Masaya, Yamakawa, Kazuhiro:Journal of Human Genetics: 10944854 |
2 | c.168C>T | p.Pro56Pro | Male | Not Known | 1794 | :Friez, Michael:: | |
3 | c.168C>T | p.Pro56Pro | Male | Not Known | 2140 | :Cardiff, UK:: |