Variant information



Systematic Name c.393C>G
Protein name p.Ala131Ala
Mutation type Silent
Domain MBD
Pathogenicity Silent polymorphism

Matching entries in the proband database


No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id
1 c.393C>G p.Ala131Ala Silent MBD Silent polymorphism Female Rett syndrome-Not certain 1639
2 c.393C>G p.Ala131Ala Silent MBD Silent polymorphism Male Not Rett synd. 2496
3 c.393C>G p.Ala131Ala silent MBD Silent polymorphism Unknown Not Rett synd. 2664
4 c.393C>G p.Ala131Ala silent MBD Silent polymorphism Unknown Not Rett synd. 3995