Variant information
| Systematic Name | c.1035A>G |
|---|---|
| Protein name | p.Lys345Lys |
| Mutation type | Silent |
| Domain | C-term |
| Pathogenicity | Silent polymorphism |
Matching entries in the proband database
| No: | Systematic Name | Protein name | Mutation type | Domain | Pathogenicity | Gender | Phenotype | Proband id |
|---|---|---|---|---|---|---|---|---|
| 1 | c.1035A>G | p.Lys345Lys | Silent | C-term | Silent polymorphism | Female | Rett syndrome-Not certain | 17 |
| 2 | c.1035A>G | p.Lys345Lys | Silent | C-term | Silent polymorphism | Male | Not Rett synd. | 1021 |
| 3 | c.1035A>G | p.Lys345Lys | Silent | C-term | Silent polymorphism | Female | Rett syndrome-Not certain | 1635 |
| 4 | c.1035A>G | p.Lys345Lys | Silent | C-term | Silent polymorphism | Male | Not Known | 1808 |
| 5 | c.1035A>G | p.Lys345Lys | Silent | C-term | Silent polymorphism | Female | Not Known | 2158 |
| 6 | c.1035A>G | p.Lys345Lys | Silent | C-term | Silent polymorphism | Male | Not Rett synd. | 2159 |
| 7 | c.1035A>G | p.Lys345Lys | Silent | C-term | Silent polymorphism | Female | Not Rett synd. | 2377 |
| 8 | c.1035A>G | p.Lys345Lys | Silent | C-term | Silent polymorphism | Male | Not Rett synd. | 2378 |
| 9 | c.1035A>G | p.Lys345Lys | silent | C-term | Silent polymorphism | Unknown | Not Rett synd. | 2655 |
| 10 | c.1035A>G | p.Lys345Lys | silent | C-term | Silent polymorphism | Unknown | Not Rett synd. | 4626 |
| 11 | c.1035A>G | p.Lys345Lys | silent | C-term | Silent polymorphism | Unknown | Not Rett synd. | 5209 |
| 12 | c.1035A>G | p.Lys345Lys | silent | C-term | Silent polymorphism | Unknown | Not Rett synd. | 5210 |
| 13 | c.1035A>G | silent | C-term | Silent polymorphism | Female | Not Rett synd. | 6863 |