Variant information



Systematic Name c.189_190delGA
Protein name p.Glu63fs
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.189_190delGA p.Glu63fs frameshift insertion or deletion N-term Mutation associated with disease Female Rett syndrome-Classical 2564