Variant information


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

Proband information


Source of DNA blood
Detection direct
Extent promoter and exons 1-4
Number of chromosomes checked
Carrier status checked Not checked
Carrier result
Other mutations NK
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial NK
Phenotype-class Rett syndrome-classical
Reference 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

Matching entries in the proband database


No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id References
1 c.[808C>T(;) 1326C>T] p.[Arg270*(;) Thr442Thr] nonsense, silent TRD-NLS, C-term Mutation associated with disease 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