Variant information



Systematic Name c.1072G>A
Protein name p.Ala358Thr
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.1072G>A p.Ala358Thr missense C-term Polymorphism not causing disease Female Rett syndrome-not certain 3566
2 c.1072G>A p.Ala358Thr missense C-term Polymorphism not causing disease Male Not Rett synd. 3810
3 c.1072G>A p.Ala358Thr missense C-term Polymorphism not causing disease Female Not Rett synd. 3989
4 c.1072G>A p.Ala358Thr missense C-term Polymorphism not causing disease Female Not Rett synd. 4892
5 c.1072G>A p.Ala358Thr missense C-term Polymorphism not causing disease Male Not Rett synd. 4893