Variant information

Systematic Name
c.[808C>T(;) 1326C>T]
Protein name
p.[Arg270*(;) Thr442Thr]
Alternate systematic Name
Alternate Protein name
Genomic nomenclature
Mutation type nonsense, silent
Domain TRD-NLS, C-term
Pathogenicity Mutation associated with disease

View proband information

No: Systematic Name Protein name Gender Phenotype Proband id References View
1 c.[808C>T(;) 1326C>T] p.[Arg270*(;) Thr442Thr] Female Rett syndrome-classical 2825 Diagnostic mutational analysis of MECP2 in Korean patients with Rett syndrome:Kim, I.-J., Kim, Y.-J., Son, B.-H., Nam, S.-O., Kang, H.-C., Kim, H.-D., Yoo, M.-A., Choi, O.-H., Kim, C.-M.:Experimental and Molecular Medicine: 16672765 View details