Variant information



Systematic Name c.1101_1201del101
Protein name p.His367fs
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.1101_1201del101 p.His367fs Frameshift insertion or deletion C-term Mutation associated with disease Unknown Rett syndrome-Not certain 853
2 c.1101_1201del101 p.His367fs frameshift insertion or deletion C-term Mutation associated with disease Female Rett syndrome-classical 5063