Variant information
Systematic Name (NM_004992.3:) |
c.573C>T |
---|---|
Protein name (NP_004983) |
p.Pro191Pro |
Alternate systematic Name (NM_001110792.1:) |
c.609C>T |
Alternate Protein name (NP_001104262) |
p.(=) |
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.153296706G>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.573C>T | p.Pro191Pro | Male | Not Rett synd. | 3022 | 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 |