Variant information


Systematic Name
(NM_004992.3:)
c.1158_1200del43
Protein name
(NP_004983)
p.Pro387fs
Alternate systematic Name
(NM_001110792.1:)
c.1194_1236del43
Alternate Protein name
(NP_001104262)
p.(Pro399Alafs*8)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)
g.153296079_153296121del43
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.1158_1200del43 p.Pro387fs Unknown Rett syndrome-Not certain 259 A detailed analysis of the MECP2 gene: prevalence of recurrent mutations and gross DNA rearrangements in Rett syndrome patients:Bourdon, Violaine, Philippe, Christophe, Labrune, Orianne, Amsallem, Daniel, Arnould, CÚcile, Jonveaux, Philippe:Human genetics: 11214906 View details
2 c.1158_1200del43 p.Pro387fs Female Rett syndrome-not certain 3310 Spectrum and distribution of MECP2 mutations in 424 Rett syndrome patients: a molecular update:Philippe C, Villard L, de Roux N, Raynaud M, Bonnefond JP, Pasquier L, Lesca G, Mancini J, Jonveaux P, Moncla A, Chelly J, Bienvenu T:European Journal of Medical Genetics: 16473305 View details