Proband information


Proband id 942
Systematic Name
(NM_004992.3:)		 c.1461A>C
Protein name
(NP_004983)		 p.*487Cysext*27
Alternate systematic Name
(NM_001110792.1:)		 c.1497A>C
Alternate Protein name
(NP_001104262)		 p.(*499Cysext*27)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.153295818T>G
Mutation type Nonstop
Domain C-term
Pathogenicity Unknown
Evidence of Pathogenicity
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.1461A>C p.*487Cysext*27 Female Neither parent has variation Rett syndrome-Classical 942 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