Variant information



Systematic Name c.1154_1197del44
Protein name p.Pro385fs
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.1154_1197del44 p.Pro385fs Frameshift insertion or deletion C-term Mutation associated with disease Unknown Rett syndrome-Forme fruste 916
2 c.1154_1197del44 p.Pro385fs Frameshift insertion or deletion C-term Mutation associated with disease Female Rett syndrome-Classical 2180
3 c.1154_1197del44 p.Pro385fs frameshift insertion or deletion C-term Mutation associated with disease Female Rett syndrome-classical 2829
4 c.1154_1197del44 p.Pro385fs frameshift insertion or deletion C-term Mutation associated with disease Female Rett syndrome-classical 2950
5 c.1154_1197del44 p.Pro385fs frameshift insertion or deletion C-term Mutation associated with disease Female Rett syndrome-classical 3009
6 c.1154_1197del44 p.Pro385fs frameshift insertion or deletion C-term Mutation associated with disease Female Rett syndrome-not certain 3508