Variant information



Systematic Name c.378-3C>G
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 c.378-3C>G intronic variation Intronic variation Intronic Mutation associated with disease Female Rett syndrome-Classical 2102
2 c.378-3C>G intronic variation intronic variation intronic Mutation associated with disease Female Rett syndrome-classical 3764
3 c.378-3C>G intronic variation intronic variation intronic Mutation associated with disease Female Rett syndrome-classical 6350