Variant information



Systematic Name c.422dupA
Protein name p.Tyr141*
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.422dupA p.Tyr141* Frameshift insertion or deletion MBD Mutation associated with disease Female Not Known 1561