Variant information



Systematic Name c.1339G>A
Protein name p.Ala447Thr
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.1339G>A p.Ala447Thr missense C-term Polymorphism not causing disease Female Rett syndrome-not certain 3801
2 c.1339G>A p.Ala447Thr missense C-term Polymorphism not causing disease Female Not Rett synd. 3802
3 c.1339G>A p.Ala447Thr missense C-term Polymorphism not causing disease Female Not Rett synd. 4604
4 c.1339G>A p.Ala447Thr missense C-term Polymorphism not causing disease Male Not Rett synd. 4605
5 c.1339G>A p.Ala447Thr missense C-term Polymorphism not causing disease Unknown Not Rett synd. 5224