Variant information



Systematic Name AY523575.1:g.1029dupC
Protein name 5'UTR variation
Mutation type 5'UTR variation
Domain 5'UTR
Pathogenicity Polymorphism not causing disease

Matching entries in the proband database


No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id
1 AY523575.1:g.1029dupC 5'UTR variation 5'UTR variation 5'UTR Polymorphism not causing disease Female Rett syndrome-classcial 2913
2 AY523575.1:g.1029dupC 5'UTR variation 5'UTR variation 5'UTR Polymorphism not causing disease Female Rett syndrome-atypical 2914
3 AY523575.1:g.1029dupC 5'UTR variation 5'UTR variation 5'UTR Polymorphism not causing disease Female Rett syndrome-atypical 2915
4 AY523575.1:g.1029dupC 5'UTR variation 5'UTR variation 5'UTR Polymorphism not causing disease Female Not Rett synd. 3983
5 AY523575.1:g.1029dupC 5'UTR variation 5'UTR variation 5'UTR Polymorphism not causing disease Male Not Rett synd. 3984
6 AY523575.1:g.1029dupC 5'UTR variation 5'UTR variation 5'UTR Polymorphism not causing disease Male Not Rett synd. 3985
7 AY523575.1:g.1029dupC 5'UTR variation 5'UTR variation 5'UTR Polymorphism not causing disease Male Not Rett synd. 3986