Variant information



Systematic Name c.1164_1206del43
Protein name p.Pro389fs
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.1164_1206del43 p.Pro389fs Frameshift insertion or deletion C-term Mutation associated with disease Female Rett syndrome-Not certain 43
2 c.1164_1206del43 p.Pro389fs Frameshift insertion or deletion C-term Mutation associated with disease Unknown Rett syndrome-Not certain 260
3 c.1164_1206del43 p.Pro389fs Frameshift insertion or deletion C-term Mutation associated with disease Unknown Rett syndrome-Not certain 261
4 c.1164_1206del43 p.Pro389fs frameshift insertion or deletion C-term Mutation associated with disease Female Rett syndrome-not certain 3415