Proband information


Proband id 2825
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
Evidence of Pathogenicity
Detection direct
Extent promoter and exons 1-4
Source of DNA blood
Carrier NC
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 Gender Carrier result Phenotype Proband id Reference
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