Variant information



Systematic Name c.[1159_1174del16; 1205_1432del228]
Protein name p.Pro387fs
Mutation type frameshift insertion or deletion
Domain C-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.[1159_1174del16; 1205_1432del228] p.Pro387fs frameshift insertion or deletion C-term Mutation associated with disease Female Rett syndrome-not certain 3295