Proband information
Matching entries in the proband database
No: | Systematic Name | Protein name | Gender | Carrier result | Phenotype | Proband id | Reference |
---|---|---|---|---|---|---|---|
1 | c.[473C>T];[1189G>A] | p.[Thr158Met];[Glu397Lys] | Female | Mother is carrier of polymorphism 1189G>A but not mutation 473C>T, Father is not carrier | Rett syndrome-Atypical | 438 | ::: |