Variant information



Systematic Name c.856_859delAAAG
Protein name p.Lys286fs
Mutation type frameshift insertion or deletion
Domain TRD
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.856_859delAAAG p.Lys286fs Frameshift insertion or deletion TRD Mutation associated with disease Female Rett syndrome-Not certain 35
2 c.856_859delAAAG p.Lys286fs Frameshift insertion or deletion TRD Mutation associated with disease Female Rett syndrome-Not certain 1607
3 c.856_859delAAAG p.Lys286fs Frameshift insertion or deletion TRD Mutation associated with disease Female Rett syndrome-Not certain 1841
4 c.856_859delAAAG p.Lys286fs Frameshift insertion or deletion TRD Mutation associated with disease Female Rett syndrome-Atypical 2104
5 c.856_859delAAAG p.Lys286fs Frameshift insertion or deletion TRD Mutation associated with disease Female Rett syndrome-Classical 2501
6 c.856_859delAAAG p.Lys286fs frameshift insertion or deletion TRD Mutation associated with disease Female Rett syndrome-Classical 2610
7 c.856_859delAAAG p.Lys286fs frameshift insertion or deletion TRD Mutation associated with disease Female Rett syndrome-not certain 3279
8 c.856_859delAAAG p.Lys286fs frameshift insertion or deletion TRD Mutation associated with disease Female Rett syndrome-not certain 3355
9 c.856_859delAAAG p.Lys286fs frameshift insertion or deletion TRD Mutation associated with disease Female Rett syndrome-not certain 3793
10 c.856_859delAAAG p.Lys286fs frameshift insertion or deletion TRD Mutation associated with disease Female Rett syndrome-classical 6630