Variant information


Systematic Name
(NM_004992.3:)
c.1196_1266del71
Protein name
(NP_004983)
p.Pro399fs
Alternate systematic Name
(NM_001110792.1:)
c.1232_1302del71
Alternate Protein name
(NP_001104262)
p.(Pro411Leufs*13)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)
g.153296013_153296083del71
Mutation type frameshift insertion or deletion
Domain C-term
Pathogenicity Mutation associated with disease

View proband information


No: Systematic Name Protein name Gender Phenotype Proband id References View
1 c.1196_1266del71 p.Pro399fs Female Rett syndrome-not certain 3522 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