Variant information



Systematic Name c.413T>A
Protein name p.Leu138*
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.413T>A p.Leu138* nonsense MBD Mutation associated with disease Female Rett syndrome-not certain 3170