Variant information



Systematic Name c.1449G>A
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.1449G>A Missense C-term Polymorphism not causing disease Female Not Rett synd. 6872