Variant information
Systematic Name (NM_004992.3:) |
c.310T>C |
---|---|
Protein name (NP_004983) |
p.Trp104Arg |
Alternate systematic Name (NM_001110792.1:) |
c.346T>C |
Alternate Protein name (NP_001104262) |
p.(Trp116Arg) |
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.153297725A>G |
Mutation type | missense |
Domain | MBD |
Pathogenicity | Unknown |
View proband information
No: | Systematic Name | Protein name | Gender | Phenotype | Proband id | References | View |
---|---|---|---|---|---|---|---|
1 | c.310T>C | p.Trp104Arg | Female | Rett syndrome-not certain | 3514 | Spectrum of MECP2 mutations in Rett syndrome:Bienvenu T, Villard L, de Roux N, Bourdon V, Fontes M, Beldjord C, Tardieu M, Jonveaux P, Chelly J:Genetic testing: 12180070 | View details |