Proband information
Proband id | 2831 |
---|---|
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 variation, TRD-NLS |
Pathogenicity | Mutation associated with disease |
Evidence of Pathogenicity | 100 chromosomes tested and not found in 100 chromosomes |
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.[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 | |
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 |