Proband information
Proband id | 3022 |
---|---|
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 |
Evidence of Pathogenicity | |
Detection | direct |
Extent | exons 2-4 |
Source of DNA | not known |
Carrier | N |
Carrier result | |
Other mutations | NK |
X-inactivation results | |
X-inactivation relatives | |
Gender | Male |
Sporadic/Familial | not known |
Phenotype-class | Not Rett synd.-mental retardation |
Reference | 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 |
Matching entries in the proband database
No: | Systematic Name | Protein name | Gender | Carrier result | Phenotype | Proband id | Reference |
---|---|---|---|---|---|---|---|
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 |