Variant information



Systematic Name c.1159_1160delCCinsT
Protein name p.Pro387fs
Mutation type frameshift combined insertion and 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.1159_1160delCCinsT p.Pro387fs frameshift combined insertion and deletion C-term Mutation associated with disease Female Not Rett synd. 4773
2 c.1159_1160delCCinsT p.Pro387fs frameshift combined insertion and deletion C-term Mutation associated with disease Female Rett syndrome-atypical 4774
3 c.1159_1160delCCinsT p.Pro387fs frameshift combined insertion and deletion C-term Mutation associated with disease Female Not Rett synd. 4775
4 c.1159_1160delCCinsT p.Pro387fs frameshift combined insertion and deletion C-term Mutation associated with disease Male Rett syndrome-not certain 4776