Proband information
Matching entries in the proband database
No: | Systematic Name | Protein name | Gender | Carrier result | Phenotype | Proband id | Reference |
---|---|---|---|---|---|---|---|
1 | c.146C>A | p.Ser49* | Unknown | Rett syndrome-Not certain | 236 | A detailed analysis of the MECP2 gene: prevalence of recurrent mutations and gross DNA rearrangements in Rett syndrome patients:Bourdon, Violaine, Philippe, Christophe, Labrune, Orianne, Amsallem, Daniel, Arnould, Cécile, Jonveaux, Philippe:Human genetics: 11214906 | |
2 | c.146C>A | p.Ser49* | Female | Not Known | 1755 | :Friez, Michael:: | |
3 | c.146C>A | p.Ser49* | Female | Rett syndrome-Atypical | 2338 | :Cardiff, UK:: | |
4 | c.146C>A | p.Ser49* | Female | Rett syndrome-classical | 6602 | ::: |