Variant information



Systematic Name c.274G>T
Protein name p.Gly92*
Mutation type nonsense
Domain MBD
Pathogenicity Mutation associated with disease

Matching entries in the proband database


No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id
1 c.274G>T p.Gly92* nonsense MBD Mutation associated with disease Female Rett syndrome-classical 4396