Proband information
Proband id | 3034 |
---|---|
Systematic Name (NM_004992.3:) |
c.1438C>T |
Protein name (NP_004983) |
p.Pro480Ser |
Alternate systematic Name (NM_001110792.1:) |
c.1474C>T |
Alternate Protein name (NP_001104262) |
p.(Pro492Ser) |
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.153295841G>A |
Mutation type | missense |
Domain | C-term |
Pathogenicity | Polymorphism not causing disease |
Evidence of Pathogenicity | 150 chromosomes tested and not found in 150 chromosomes |
Detection | direct |
Extent | exons 2-4 |
Source of DNA | not known |
Carrier | Y |
Carrier result | found in healthy brother and mother carrier |
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.1438C>T | p.Pro480Ser | Male | found in healthy brother and mother carrier | Not Rett synd. | 3034 | 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 |
2 | c.1438C>T | p.Pro480Ser | Male | Not Rett synd. | 4060 | 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 | |
3 | c.1438C>T | p.Pro480Ser | Female | Not Rett synd. | 4061 | 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 |