Proband information
Matching entries in the proband database
No: | Systematic Name | Protein name | Gender | Carrier result | Phenotype | Proband id | Reference |
---|---|---|---|---|---|---|---|
1 | c.598A>T | p.Lys200* | Female | Mother is not carrier, Father is not carrier | Rett syndrome-Classical | 430 | ::: |
2 | c.598A>T | p.Lys200* | Female | Rett syndrome-Not certain | 1862 | :Bunyan, D.:: |