Variant information

Systematic Name
Protein name
3'UTR variation
Alternate systematic Name
Alternate Protein name
Genomic nomenclature
Mutation type 3'UTR variation
Domain 3'UTR
Pathogenicity Polymorphism not causing disease

View proband information

No: Systematic Name Protein name Gender Phenotype Proband id References View
1 c.*1134G>A 3'UTR variation Female Rett syndrome-congenital 3860 Analysis of highly conserved regions of the 3'UTR of MECP2 gene in patients with clinical diagnosis of Rett syndrome and other disorders associated with mental retardation:Santos, M., Yan, J., Temudo, T., Oliveira, G., Vieira, J.P., Fen, J., Sommer, S., Maciel, P.:Disease Markers: 18688080 View details