Proband information


Proband id 3981
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
Carrier result
Other mutations NK
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial familial
Phenotype-class Not Rett synd.-unaffected family member
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