Variant information



Systematic Name c.249_250ins7
Protein name p.Arg84fs
Mutation type Frameshift insertion or deletion
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.249_250ins7 p.Arg84fs Frameshift insertion or deletion MBD Mutation associated with disease Female Not Known 1766