Proband information
Proband id | 2771 |
---|---|
Systematic Name (NM_004992.3:) |
c.547G>C |
Protein name (NP_004983) |
p.Gly183Arg |
Alternate systematic Name (NM_001110792.1:) |
c.583G>C |
Alternate Protein name (NP_001104262) |
p.(Gly195Arg) |
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.153296732C>G |
Mutation type | missense |
Domain | inter-domain region |
Pathogenicity | Polymorphism not causing disease |
Evidence of Pathogenicity | 200 chromosomes tested and not found in 200 chromosomes |
Detection | direct |
Extent | exons2-4 |
Source of DNA | blood |
Carrier | Y |
Carrier result | present in unaffected mother |
Other mutations | NK |
X-inactivation results | |
X-inactivation relatives | |
Gender | Female |
Sporadic/Familial | sporadic |
Phenotype-class | Not Rett synd.-mental retardation |
Reference | A new cohort of MECP2 mutation screening in unexplained mental retardation:Donzel-Javouhey, A., Thauvin-Robinet, C., Cusin, V., Madinier, N., Manceau, E., Dipanda, D., Dulieu, V., Mugneret, F., Huet, F., Teyssier, J.-R., Faivre, L.:American Journal of Medical Genetics Part A: 16763963 |
Matching entries in the proband database
No: | Systematic Name | Protein name | Gender | Carrier result | Phenotype | Proband id | Reference |
---|---|---|---|---|---|---|---|
1 | c.547G>C | p.Gly183Arg | Female | present in unaffected mother | Not Rett synd. | 2771 | A new cohort of MECP2 mutation screening in unexplained mental retardation:Donzel-Javouhey, A., Thauvin-Robinet, C., Cusin, V., Madinier, N., Manceau, E., Dipanda, D., Dulieu, V., Mugneret, F., Huet, F., Teyssier, J.-R., Faivre, L.:American Journal of Medical Genetics Part A: 16763963 |
2 | c.547G>C | p.Gly183Arg | Female | Not Rett synd. | 3981 | A new cohort of MECP2 mutation screening in unexplained mental retardation:Donzel-Javouhey, A., Thauvin-Robinet, C., Cusin, V., Madinier, N., Manceau, E., Dipanda, D., Dulieu, V., Mugneret, F., Huet, F., Teyssier, J.-R., Faivre, L.:American Journal of Medical Genetics Part A: 16763963 |