Variant information



Systematic Name c.832G>A
Protein name p.Ala278Thr
Mutation type missense
Domain TRD
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.832G>A p.Ala278Thr missense TRD Polymorphism not causing disease Female Not Rett synd. 5236