Variant information



Systematic Name MECP2_e1:c.62+2_63+3delTG
Protein name Intronic variation
Mutation type Frameshift deletion
Domain N-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 MECP2_e1:c.62+2_63+3delTG Intronic variation Frameshift deletion N-term Mutation associated with disease Male Rett syndrome-male variant 5327