Variant information



Systematic Name c.100_103delGATA
Protein name p.Asp34fs
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.100_103delGATA p.Asp34fs Frameshift insertion or deletion N-term Mutation associated with disease Female Rett syndrome-Classical 468
2 c.100_103delGATA p.Asp34fs Frameshift insertion or deletion N-term Mutation associated with disease Unknown Rett syndrome-classical 1525