Proband information


Proband id 939
Systematic Name
(NM_004992.3:)		 c.1038C>G
Protein name
(NP_004983)		 p.Ser346Arg
Alternate systematic Name
(NM_001110792.1:)		 c.1074C>G
Alternate Protein name
(NP_001104262)		 p.(Ser358Arg)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.153296241G>C
Mutation type Missense
Domain C-term
Pathogenicity Mutation associated with disease
Evidence of Pathogenicity 100 chromosomes tested and not found in 100 chromosomes
Detection
Extent Exons 2-4
Source of DNA
Carrier Y
Carrier result Neither parent has variation
Other mutations NK
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial sporadic
Phenotype-class Rett syndrome-Classical
Reference 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

Matching entries in the proband database


No: Systematic Name Protein name Gender Carrier result Phenotype Proband id Reference
1 c.1038C>G p.Ser346Arg Female Neither parent has variation Rett syndrome-Classical 939 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