Variant information



Systematic Name MECP2_e1: c.62+2_62+3delTG
Protein name intronic variation
Mutation type intronic variation
Domain intronic
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_62+3delTG intronic variation intronic variation intronic Mutation associated with disease Female Rett syndrome-classical 3866
2 MECP2_e1: c.62+2_62+3delTG intronic variation intronic variation intronic Mutation associated with disease Female Rett syndrome-classical 2757
3 MECP2_e1: c.62+2_62+3delTG intronic variation intronic variation intronic Mutation associated with disease Female Rett syndrome-classical 2800