Variant information


Systematic Name
(NM_004992.3:)		 c.397C>G
Protein name
(NP_004983)		 p.Arg133Gly
Alternate systematic Name
(NM_001110792.1:)		 c.433C>G
Alternate Protein name
(NP_001104262)		 p.(Arg145Gly)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.153296882G>C
Mutation type Missense
Domain MBD
Pathogenicity Unknown

View proband information


No: Systematic Name Protein name Gender Phenotype Proband id References View
1 c.397C>G p.Arg133Gly Female Not Known 1798 :Friez, Michael:: View details
2 c.397C>G p.Arg133Gly Female Rett syndrome-not certain 3431 Spectrum of MECP2 mutations in Rett syndrome:Bienvenu T, Villard L, de Roux N, Bourdon V, Fontes M, Beldjord C, Tardieu M, Jonveaux P, Chelly J:Genetic testing: 12180070 View details