Variant information



Systematic Name c.245A>G
Protein name p.Lys82Arg
Mutation type missense
Domain MBD
Pathogenicity Polymorphism not causing disease

Matching entries in the proband database


No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id
1 c.245A>G p.Lys82Arg missense MBD Polymorphism not causing disease Male Not Rett synd. 2673