Variant information

Systematic Name c.392C>A
Protein name p.Ala131Asp
Mutation type missense
Domain MBD
Pathogenicity Unknown

Matching entries in the proband database

No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id
1 c.392C>A p.Ala131Asp missense MBD Unknown Female Rett syndrome-classical 3623
2 c.392C>A p.Ala131Asp missense MBD Mutation associated with disease Female Rett syndrome-classical 6760