Proband information
Proband id | 3318 |
---|---|
Systematic Name (NM_004992.3:) |
c.1165_1190del26 |
Protein name (NP_004983) |
p.Pro389fs |
Alternate systematic Name (NM_001110792.1:) |
c.1201_1226del26 |
Alternate Protein name (NP_001104262) |
p.(Pro401Glyfs*7) |
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.153296089_153296114del26 |
Mutation type | frameshift insertion or deletion |
Domain | C-term |
Pathogenicity | Mutation associated with disease |
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 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 |
Matching entries in the proband database
No: | Systematic Name | Protein name | Gender | Carrier result | Phenotype | Proband id | Reference |
---|---|---|---|---|---|---|---|
1 | c.1165_1190del26 | p.Pro389fs | Female | Neither parent has variation | Rett syndrome-Classical | 929 | MECP2 mutations account for most cases of typical forms of Rett syndrome:Bienvenu, Thierry, Carrié, Alain, de Roux, Nicolas, Vinet, Marie-Claude, Jonveaux, Philippe, Couvert, Philippe, Villard, Laurent, Arzimanoglou, Alexis, Beldjord, Cherif, Fontes, Michel, Tardieu, Marc and Chelly, Jamel:Human Molecular Genetics: 10814719 |
2 | c.1165_1190del26 | p.Pro389fs | Female | Rett syndrome-not certain | 3318 | 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 | |
3 | c.1165_1190del26 | p.Pro389fs | Female | Rett syndrome-not certain | 3320 | 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 |