Variant information
Systematic Name (NM_004992.3:) |
c.1071C>T |
---|---|
Protein name (NP_004983) |
p.Ser357Ser |
Alternate systematic Name (NM_001110792.1:) |
c.1107C>T |
Alternate Protein name (NP_001104262) |
p.(=) |
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.153296208G>A |
Mutation type | Silent |
Domain | C-term |
Pathogenicity | Silent polymorphism |
View proband information
No: | Systematic Name | Protein name | Gender | Phenotype | Proband id | References | View |
---|---|---|---|---|---|---|---|
1 | c.1071C>T | p.Ser357Ser | Female | Not Rett synd. | 211 | MECP2 mutation in male patients with non-specific X-linked mental retardation:Orrico, Alfredo, Lam, Ching-Wan, Galli, Lucia, Dotti, Maria Teresa, Hayek, Giuseppe, Tong, Sui-Fan, Poon, Priscilla M.K., Zappella, Michele, Federico, Antonio, Sorrentino, Vincenzo:FEBS letters: 11007980 | View details |
2 | c.1071C>T | p.Ser357Ser | Female | Rett syndrome-Not certain | 1627 | :Bunyan, D.:: | View details |