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 |