Variant information



Systematic Name c.1180G>A
Protein name p.Glu394Lys
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.1180G>A p.Glu394Lys missense C-term Polymorphism not causing disease Male Not Rett synd. 3033
2 c.1180G>A p.Glu394Lys missense C-term Polymorphism not causing disease Male Not Rett synd. 4058
3 c.1180G>A p.Glu394Lys missense C-term Polymorphism not causing disease Female Not Rett synd. 4059
4 c.1180G>A p.Glu394Lys missense C-term Polymorphism not causing disease Male Not Rett synd. 5237