Variant information



Systematic Name c.108_111delAGAA
Protein name p.Glu37fs
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.108_111delAGAA p.Glu37fs Frameshift insertion or deletion N-term Mutation associated with disease Female Rett syndrome-Not certain 1857
2 c.108_111delAGAA p.Glu37fs Frameshift insertion or deletion N-term Mutation associated with disease Female Rett syndrome-Not certain 1876