Variant information



Systematic Name c.482G>A
Protein name p.Gly161Glu
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.482G>A p.Gly161Glu missense MBD Unknown Female Rett syndrome-classical 2812