Proband information


Proband id 3200
Systematic Name
(NM_004992.3:)		 c.592A>T
Protein name
(NP_004983)		 p.Arg198*
Alternate systematic Name
(NM_001110792.1:)		 c.628A>T
Alternate Protein name
(NP_001104262)		 p.(Arg210*)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.153296687T>A
Mutation type nonsense
Domain inter-domain region
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.592A>T p.Arg198* Female Neither parent has variation Rett syndrome-Classical 930 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.592A>T p.Arg198* Female Rett syndrome-not certain 3200 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