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