Variant information



Systematic Name c.1430G>C
Protein name p.Ser477Thr
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.1430G>C p.Ser477Thr Missense C-term Polymorphism not causing disease Male Not Rett synd. 394
2 c.1430G>C p.Ser477Thr Missense C-term Polymorphism not causing disease Female Not Rett synd. 395
3 c.1430G>C p.Ser477Thr missense C-term Polymorphism not causing disease Unknown Not Rett synd. 2658