Variant information



Systematic Name c.375delC
Protein name p.Asn126fs
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.375delC p.Asn126fs Frameshift insertion or deletion MBD Mutation associated with disease Female Rett syndrome-Classical 185
2 c.375delC p.Asn126fs frameshift insertion or deletion MBD Mutation associated with disease Female Rett syndrome-classical 3754