Variant information


Systematic Name
(NM_004992.3:)		 c.603G>A
Protein name
(NP_004983)		 p.Ala201Ala
Alternate systematic Name
(NM_001110792.1:)		 c.639G>A
Alternate Protein name
(NP_001104262)		 p.(=)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.153296676C>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.603G>A p.Ala201Ala Female Not Rett synd. 4391 Identification and characterization of novel sequence variations in MECP2 gene in Rett syndrome patients:Monnerat, L.S., Moreira, A.D.S., Alves,M.C.V., Bonvicino, C.R., Vargas, F.R.:Brain & Development: 20031356 View details