Variant information


Systematic Name
(NM_004992.3:)		 c.[26+22C>G(;) 808C>T]
Protein name
(NP_004983)		 p.Arg270*
Alternate systematic Name
(NM_001110792.1:)		 c.[62+5441C>G;844C>T]
Alternate Protein name
(NP_001104262)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.[153357620G>C;153296471G>A]
Mutation type intronic variation, nonsense
Domain intronic, TRD-NLS
Pathogenicity Mutation associated with disease

View proband information


No: Systematic Name Protein name Gender Phenotype Proband id References View
1 c.[26+22C>G(;) 808C>T] p.Arg270* Female Rett syndrome-classical 2823 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
2 c.[26+22C>G(;) 808C>T] p.Arg270* Female Rett syndrome-classical 2831 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