Variant information



Systematic Name c.750_750delCinsTCAGGAAGCTT
Protein name p.Pro251fs
Mutation type Frameshift combined insertion and 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.750_750delCinsTCAGGAAGCTT p.Pro251fs Frameshift combined insertion and deletion TRD Mutation associated with disease Female Rett syndrome-Not certain 1380