Variant information



Systematic Name c.1127_1179del53
Protein name p.Pro376fs
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.1127_1179del53 p.Pro376fs Frameshift insertion or deletion C-term Mutation associated with disease Female Rett syndrome-Not certain 1205
2 c.1127_1179del53 p.Pro376fs Frameshift insertion or deletion C-term Mutation associated with disease Unknown Rett syndrome-atypical 1527
3 c.1127_1179del53 p.Pro376fs frameshift insertion or deletion C-term Mutation associated with disease Female Rett syndrome-not certain 3520
4 c.1127_1179del53 p.Pro376fs frameshift insertion or deletion C-term Mutation associated with disease Female Rett syndrome-not certain 3608