Variant information



Systematic Name c.279C>T
Protein name p.Pro93Pro
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.279C>T p.Pro93Pro silent MBD Silent polymorphism Female Rett syndrome-atypical 4080