Proband information
Matching entries in the proband database
No: | Systematic Name | Protein name | Gender | Carrier result | Phenotype | Proband id | Reference |
---|---|---|---|---|---|---|---|
1 | c.1430G>C | p.Ser477Thr | Male | Relative of proband | Not Rett synd. | 394 | ::: |
2 | c.1430G>C | p.Ser477Thr | Female | Relative of proband | Not Rett synd. | 395 | ::: |
3 | c.1430G>C | p.Ser477Thr | Unknown | Not Rett synd. | 2658 | Mutation screening of the MECP2 gene in a large cohort of 613 fragile-X negative patients with mental retardation:Lesca, G., Bernard, V., Bozon, M., Touraine, R., Gérard, D., Edery, P., Calender, A.:European Journal of Medical Genetics: 17383248 |