Variant information
Systematic Name (NM_004992.3:) |
c.[528C>G; 897C>T] |
---|---|
Protein name (NP_004983) |
p.[Pro176Pro; Thr299Thr] |
Alternate systematic Name (NM_001110792.1:) |
c.[564C>G;933C>T] |
Alternate Protein name (NP_001104262) |
p.? |
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.[153296751G>C;153296382G>A] |
Mutation type | silent |
Domain | inter-domain region |
Pathogenicity | Silent polymorphism |
View proband information
No: | Systematic Name | Protein name | Gender | Phenotype | Proband id | References | View |
---|---|---|---|---|---|---|---|
1 | c.[528C>G; 897C>T] | p.[Pro176Pro; Thr299Thr] | Male | Not Rett synd. | 3021 | Low frequency of MECP2 mutations in mentally retarded males:Yntema HG, Kleefstra T, Oudakker AR, Romein T, de Vries BBA, Nillesen W, Sistermans EA, Brunner HG, Hamel BCJ, van Bokhoven H:European Journal of Human Genetics: 12111644 | View details |