Variant information



Systematic Name c.1116_1201del86
Protein name p.His372fs
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.1116_1201del86 p.His372fs Frameshift insertion or deletion C-term Mutation associated with disease Female Rett syndrome-Classical 1477
2 c.1116_1201del86 p.His372fs Frameshift insertion or deletion C-term Mutation associated with disease Female Rett syndrome-Classical 2099
3 c.1116_1201del86 p.His372fs frameshift insertion or deletion c-term Mutation associated with disease Female Rett syndrome-Classical 2623