Variant information



Systematic Name c.1129_*568delinsCCGTGG
Protein name p.Lys377fs
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.1129_*568delinsCCGTGG p.Lys377fs frameshift combined insertion and deletion C-term Mutation associated with disease Female Rett syndrome-not certain 3291