Variant information



Systematic Name MECP2_e1: c.62+1G>A
Protein name intronic variation
Mutation type intronic variation
Domain intronic
Pathogenicity Unknown

Matching entries in the proband database


No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id
1 MECP2_e1: c.62+1G>A intronic variation intronic variation intronic Unknown Female Rett syndrome-classical 3762