Variant information



Systematic Name c.[518C>G(;)678delT]
Protein name p.[Pro173Arg(;)Gln227fs]
Mutation type missense
Domain inter-domain, TRD
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.[518C>G(;)678delT] p.[Pro173Arg(;)Gln227fs] missense inter-domain, TRD Mutation associated with disease Female Rett syndrome-classical 6589