Variant information



Systematic Name c.1202G>A
Protein name p.Ser401Asn
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.1202G>A p.Ser401Asn Missense C-term Polymorphism not causing disease Male Not Rett synd. 2391
2 c.1202G>A p.Ser401Asn Missense C-term Polymorphism not causing disease Female Not Rett synd. 2392
3 c.1202G>A p.Ser401Asn Missense C-term Polymorphism not causing disease Female Not Rett synd. 2393
4 c.1202G>A p.Ser401Asn Missense C-term Polymorphism not causing disease Female Not Rett synd. 2394