Proband information
Matching entries in the proband database
No: | Systematic Name | Protein name | Gender | Carrier result | Phenotype | Proband id | Reference |
---|---|---|---|---|---|---|---|
1 | c.1215C>T | p.Pro405Pro | Female | Mother has variation, unaffected brother has variation | Not Rett synd. | 2149 | :Cardiff, UK:: |
2 | c.1215C>T | p.Pro405Pro | Female | Relative of proband | Not Rett synd. | 2150 | :Cardiff, UK:: |
3 | c.1215C>T | p.Pro405Pro | Male | Relative of proband | Not Rett synd. | 2151 | :Cardiff, UK:: |