Proband information


Proband id 2814
Systematic Name
(NM_004992.3:)		 c.[426C>T(;)916C>T]
Protein name
(NP_004983)		 p.[Phe142Phe(;)Arg306Cys]
Alternate systematic Name
(NM_001110792.1:)		 c.[462C>T;952C>T]
Alternate Protein name
(NP_001104262)		 p.?
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.[153296853G>A;153296363G>A]
Mutation type silent, missense
Domain MBD, TRD
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.[426C>T(;)916C>T] p.[Phe142Phe(;)Arg306Cys] Female Rett syndrome-classical 2814 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