Variant information



Systematic Name c.736_737insAT
Protein name p.Met246fs
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.736_737insAT p.Met246fs Frameshift insertion or deletion TRD Mutation associated with disease Female Rett syndrome-Classical 1425