Proband information
Matching entries in the proband database
No: | Systematic Name | Protein name | Gender | Carrier result | Phenotype | Proband id | Reference |
---|---|---|---|---|---|---|---|
1 | c.1239C>T | p.Cys413Cys | Female | Father has variation | Not Known | 2061 | ::: |
2 | c.1239C>T | p.Cys413Cys | Male | Relative of proband | Not Rett synd. | 2062 | ::: |