Variant information

Systematic Name c.898_1099del202
Protein name p.Val300fs
Mutation type Frameshift insertion or deletion
Domain TRD
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.898_1099del202 p.Val300fs Frameshift insertion or deletion TRD Mutation associated with disease Female Rett syndrome-Classical 1202