Variant information
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 |
View proband information
No: | Systematic Name | Protein name | Gender | Phenotype | Proband id | References | View |
---|---|---|---|---|---|---|---|
1 | c.1438C>T | p.Pro480Ser | Male | 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 | View details |
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 | View details |
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 | View details |