Variant information



Systematic Name c.1133C>G
Protein name
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>G p.Ala378Gly missense C-term Unknown Female Rett syndrome-classical 4099
2 c.1133C>G Missense C-term Polymorphism not causing disease Female Not Rett synd. 6864