Variant information



Systematic Name c.480_481delTG
Protein name p.Gly161fs
Mutation type Frameshift insertion or deletion
Domain MBD
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.480_481delTG p.Gly161fs Frameshift insertion or deletion MBD Mutation associated with disease Female Rett syndrome-Atypical 443