Variant information



Systematic Name c.126dupG
Protein name p.His43fs
Mutation type Frameshift insertion or deletion
Domain N-term
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.126dupG p.His43fs Frameshift insertion or deletion N-term Mutation associated with disease Female Rett syndrome-Atypical 2100