Proband information
Proband id | 3425 |
---|---|
Systematic Name (NM_004992.3:) |
c.316C>G |
Protein name (NP_004983) |
p.Arg106Gly |
Alternate systematic Name (NM_001110792.1:) |
c.352C>G |
Alternate Protein name (NP_001104262) |
p.(Arg118Gly) |
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.153297719G>C |
Mutation type | missense |
Domain | MBD |
Pathogenicity | Unknown |
Evidence of Pathogenicity | |
Detection | SSCP, direct |
Extent | exons 2-4 |
Source of DNA | blood |
Carrier | |
Carrier result | |
Other mutations | NK |
X-inactivation results | |
X-inactivation relatives | |
Gender | Female |
Sporadic/Familial | not known |
Phenotype-class | Rett syndrome-not certain |
Reference | 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 |
Matching entries in the proband database
No: | Systematic Name | Protein name | Gender | Carrier result | Phenotype | Proband id | Reference |
---|---|---|---|---|---|---|---|
1 | c.316C>G | p.Arg106Gly | Female | Unaffected mother is mosaic for the variation | Rett syndrome-Classical | 2194 | :Cardiff, UK:: |
2 | c.316C>G | p.Arg106Gly | Female | Relative of proband | Not Rett synd. | 2195 | :Cardiff, UK:: |
3 | c.316C>G | p.Arg106Gly | Female | Rett syndrome-Atypical | 2196 | :Cardiff, UK:: | |
4 | c.316C>G | p.Arg106Gly | Female | Rett syndrome-not certain | 3095 | Spectrum and distribution of MECP2 mutations in 424 Rett syndrome patients: a molecular update:Philippe C, Villard L, de Roux N, Raynaud M, Bonnefond JP, Pasquier L, Lesca G, Mancini J, Jonveaux P, Moncla A, Chelly J, Bienvenu T:European Journal of Medical Genetics: 16473305 | |
5 | c.316C>G | p.Arg106Gly | Female | Rett syndrome-not certain | 3425 | 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 |