Variant information



Systematic Name c.[378-61C>G; *93G>A]
Protein name intronic variation and 3'UTR variation
Mutation type Intronic variation, 3'UTR variation
Domain Intronic, 3'UTR
Pathogenicity Unknown

Matching entries in the proband database


No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id
1 c.[378-61C>G; *93G>A] intronic variation and 3'UTR variation Intronic variation, 3'UTR variation Intronic, 3'UTR Unknown Male Not Rett synd. 1979