Variant information



Systematic Name c.[678delT];[378-109A>G;518C>G]
Protein name p.[Gln227Lysfs*21];[Pro173Arg]
Mutation type frameshift insertion or deletion, intronic variation, missense
Domain TRD, intronic, inter-domain region
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.[678delT];[378-109A>G;518C>G] p.[Gln227Lysfs*21];[Pro173Arg] frameshift insertion or deletion, intronic variation, missense TRD, intronic, inter-domain region Mutation associated with disease Female Rett syndrome-not certain 5238