Variant information



Systematic Name c.378-2A>C
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.378-2A>C intronic variation Intronic variation Intronic Mutation associated with disease Unknown Rett syndrome-Not certain 253
2 c.378-2A>C intronic variation Intronic variation Intronic Mutation associated with disease Female Not Known 1677
3 c.378-2A>C intronic variation intronic variation intronic Mutation associated with disease Female Rett syndrome-classical 6603