Proband information
Matching entries in the proband database
No: | Systematic Name | Protein name | Gender | Carrier result | Phenotype | Proband id | Reference |
---|---|---|---|---|---|---|---|
1 | c.720C>T | p.Thr240Thr | Female | Father has variation | Not Known | 2132 | :Cardiff, UK:: |
2 | c.720C>T | p.Thr240Thr | Male | Relative of proband | Not Rett synd. | 2133 | :Cardiff, UK:: |