Variant information



Systematic Name c.795C>G
Protein name p.Pro265Pro
Mutation type silent
Domain TRD-NLS
Pathogenicity Silent polymorphism

Matching entries in the proband database


No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id
1 c.795C>G p.Pro265Pro silent TRD-NLS Silent polymorphism Female Rett syndrome-atypical 4085