Variant information



Systematic Name c.27-6C>G
Protein name p.Arg9fs
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.27-6C>G p.Arg9fs Intronic variation Intronic Mutation associated with disease Unknown Rett syndrome-Not certain 1355