Proband information
Matching entries in the proband database
No: | Systematic Name | Protein name | Gender | Carrier result | Phenotype | Proband id | Reference |
---|---|---|---|---|---|---|---|
1 | c.[590C>T(;)674C>T] | p.[Thr197Met(;)Pro225Arg] | Female | Mother is not carrier, Father is carrier of polymorphism, Brother is not carrier, two sisters are carriers of polymorphism | Rett syndrome-Atypical | 374 | ::: |