Variant information


Systematic Name
(NM_004992.3:)		 c.609G>A
Protein name
(NP_004983)		 p.Thr203Thr
Alternate systematic Name
(NM_001110792.1:)		 c.645G>A
Alternate Protein name
(NP_001104262)		 p.(=)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.153296670C>T
Mutation type silent
Domain inter-domain region
Pathogenicity Silent polymorphism

View proband information


No: Systematic Name Protein name Gender Phenotype Proband id References View
1 c.609G>A p.Thr203Thr Male Not Rett synd. 2751 Low significance of MECP2 mutations as a cause of mental retardation in Brazilian males:Campos, M. Jr, Abdalla, C.B., Santos-Rebouças, C.B., dos Santos, A.V., Pestana, C.P., Domingues, M.L., dos Santos, J.M., Pimentel, M.M.G.:Brain & Development: 17084570 View details