Proband information
Matching entries in the proband database
No: | Systematic Name | Protein name | Gender | Carrier result | Phenotype | Proband id | Reference |
---|---|---|---|---|---|---|---|
1 | c.518C>G | p.Pro173Arg | Female | brother and father tested normal; mother is a carrier for 518C-G; p.P173R | Not Known | 4466 | :Das, S., Dempsey, M. U. Chicago:: |
2 | c.518C>G | p.Pro173Arg | Female | Not Rett synd. | 4467 | :Das, S., Dempsey, M. U. Chicago:: | |
3 | c.518C>G | p.Pro173Arg | Female | Not Known | 4468 | :Das, S., Dempsey, M. U. Chicago:: | |
4 | c.518C>G | p.Pro173Arg | Female | in daughter with classic RTT | Not Rett synd. | 6590 | ::: |