Variant information



Systematic Name c.1142_1227del86
Protein name p.Pro381fs
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.1142_1227del86 p.Pro381fs frameshift insertion or deletion C-term Mutation associated with disease Male Rett syndrome-male variant 4219
2 c.1142_1227del86 p.Pro381fs frameshift insertion or deletion C-term Mutation associated with disease Male Rett syndrome-male variant 4220
3 c.1142_1227del86 p.Pro381fs frameshift insertion or deletion C-term Mutation associated with disease Female Not Rett synd. 4221