Proband information
Matching entries in the proband database
No: | Systematic Name | Protein name | Gender | Carrier result | Phenotype | Proband id | Reference |
---|---|---|---|---|---|---|---|
1 | c.515C>T | p.Pro172Leu | Female | in unaffected father | Not Rett synd. | 4179 | ::: |
2 | c.515C>T | p.Pro172Leu | Male | Not Rett synd. | 4180 | ::: |