Variant information



Systematic Name c.[378-109A>G;518C>G]
Protein name p.Pro173Arg
Mutation type intronic variation, missense
Domain intronic, inter-domain region
Pathogenicity Unknown

Matching entries in the proband database


No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id
1 c.[378-109A>G;518C>G] p.Pro173Arg intronic variation, missense intronic, inter-domain region Unknown Female Not Rett synd. 5239