Variant information



Systematic Name c.989_994delinsGCATCTTCTCCTCTTT
Protein name p.Glu330fs
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.989_994delinsGCATCTTCTCCTCTTT p.Glu330fs Frameshift combined insertion and deletion C-term Mutation associated with disease Unknown Rett syndrome-Classical 1203