Variant information



Systematic Name c.1133C>T
Protein name p.Ala378Val
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.1133C>T p.Ala378Val missense C-term Polymorphism not causing disease Female Rett syndrome-not certain 3167
2 c.1133C>T p.Ala378Val missense C-term Polymorphism not causing disease Female Rett syndrome-NK 3945
3 c.1133C>T p.Ala378Val missense C-term Polymorphism not causing disease Male Not Rett synd. 3946
4 c.1133C>T p.Ala378Val missense C-term Polymorphism not causing disease Unknown Not Rett synd. 3947
5 c.1133C>T p.Ala378Val missense C-term Polymorphism not causing disease Unknown Not Rett synd. 3948