Variant information



Systematic Name c.812_818del7
Protein name p.Lys271fs
Mutation type Frameshift insertion or 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.812_818del7 p.Lys271fs Frameshift insertion or deletion TRD Mutation associated with disease Female Rett syndrome-Classical 450