Variant information

Systematic Name c.[1105_1116del12; 1152_1195del44]
Protein name p.[His369_His372del; Pro385fs]
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.[1105_1116del12; 1152_1195del44] p.[His369_His372del; Pro385fs] frameshift insertion or deletion C-term Mutation associated with disease Female Rett syndrome-not certain 3288