Variant information
Systematic Name (NM_004992.3:) |
c.[808C>T(;) 1326C>T] |
---|---|
Protein name (NP_004983) |
p.[Arg270*(;) Thr442Thr] |
Alternate systematic Name (NM_001110792.1:) |
c.[844C>T;1362C>T] |
Alternate Protein name (NP_001104262) |
p.? |
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.[153296471G>A;153295953G>A] |
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 |