Variant information



Systematic Name c.311G>A
Protein name p.Trp104*
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.311G>A p.Trp104* Nonsense MBD Mutation associated with disease Female Rett syndrome-Classical 2367