Variant information



Systematic Name c.[488_995del508;1061_1062delGC;1229_1240del12]
Protein name p.Gly163Alafs*5
Mutation type in-frame insertion or deletion, frameshift insertion or deletion
Domain inter-domain region, TRD, C-term
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.[488_995del508;1061_1062delGC;1229_1240del12] p.Gly163Alafs*5 in-frame insertion or deletion, frameshift insertion or deletion inter-domain region, TRD, C-term Mutation associated with disease Female Rett syndrome-not certain 5248