Variant information



Systematic Name c.683C>G
Protein name p.Thr228Ser
Mutation type missense
Domain TRD
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.683C>G p.Thr228Ser Missense TRD Polymorphism not causing disease Female Rett syndrome-Not certain 1632
2 c.683C>G p.Thr228Ser missense TRD Polymorphism not causing disease Male Not Rett synd. 2752
3 c.683C>G p.Thr228Ser missense TRD Polymorphism not causing disease Male Not Rett synd. 3032
4 c.683C>G p.Thr228Ser missense TRD Polymorphism not causing disease Female Not Rett synd. 4057
5 c.683C>G p.Thr228Ser missense TRD Polymorphism not causing disease Unknown Not Rett synd. 5190
6 c.683C>G Missense TRD Polymorphism not causing disease Female Rett syndrome-classical 6857
7 c.683C>G Missense TRD Polymorphism not causing disease Female Not Rett synd. 6856