Proband information
Matching entries in the proband database
No: | Systematic Name | Protein name | Gender | Carrier result | Phenotype | Proband id | Reference |
---|---|---|---|---|---|---|---|
1 | c.1081C>G | p.Pro361Ala | Female | Mother has variation | Not Known | 2154 | :Cardiff, UK:: |
2 | c.1081C>G | p.Pro361Ala | Female | Relative of proband | Not Rett synd. | 2155 | :Cardiff, UK:: |
3 | c.1081C>G | p.Pro361Ala | Male | Mother has variation | Not Known | 2156 | :Cardiff, UK:: |
4 | c.1081C>G | p.Pro361Ala | Female | Relative of proband | Not Rett synd. | 2157 | :Cardiff, UK:: |