Variant information



Systematic Name c.1282G>A
Protein name p.Gly428Ser
Mutation type Missense
Domain C-term
Pathogenicity Polymorphism not causing disease

Matching entries in the proband database


No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id
1 c.1282G>A p.Gly428Ser Missense C-term Polymorphism not causing disease Male Not Rett synd. 1150
2 c.1282G>A p.Gly428Ser Missense C-term Polymorphism not causing disease Male Not Rett synd. 1529
3 c.1282G>A p.Gly428Ser Missense C-term Polymorphism not causing disease Female Not Rett synd. 1530
4 c.1282G>A p.Gly428Ser Missense C-term Polymorphism not causing disease Male Not Rett synd. 1531
5 c.1282G>A p.Gly428Ser Missense C-term Polymorphism not causing disease Female Not Rett synd. 1550
6 c.1282G>A p.Gly428Ser Missense C-term Polymorphism not causing disease Female Not Rett synd. 1551
7 c.1282G>A p.Gly428Ser Missense C-term Polymorphism not causing disease Female Not Rett synd. 1552