Proband information
Matching entries in the proband database
No: | Systematic Name | Protein name | Gender | Carrier result | Phenotype | Proband id | Reference |
---|---|---|---|---|---|---|---|
1 | c.749G>A | p.Arg250His | Female | Unaffected father has variation | Rett syndrome-Not certain | 1852 | :Bunyan, D.:: |
2 | c.749G>A | p.Arg250His | Male | Relative of proband | Not Rett synd. | 1853 | :Bunyan, D.:: |