Variant information
Systematic Name (NM_004992.3:) |
c.397C>G |
---|---|
Protein name (NP_004983) |
p.Arg133Gly |
Alternate systematic Name (NM_001110792.1:) |
c.433C>G |
Alternate Protein name (NP_001104262) |
p.(Arg145Gly) |
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.153296882G>C |
Mutation type | missense |
Domain | MBD |
Pathogenicity | Unknown |
View proband information
No: | Systematic Name | Protein name | Gender | Phenotype | Proband id | References | View |
---|---|---|---|---|---|---|---|
1 | c.397C>G | p.Arg133Gly | Female | Not Known | 1798 | :Friez, Michael:: | View details |
2 | c.397C>G | p.Arg133Gly | Female | Rett syndrome-not certain | 3431 | 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 |