Variant information



Systematic Name c.378-2A>T
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>T intronic variation intronic variation intronic Mutation associated with disease Female Rett syndrome-not certain 3594