Variant information


Systematic Name
(NM_004992.3:)
c.731_1166del436
Protein name
(NP_004983)
p.Gln244fs
Alternate systematic Name
(NM_001110792.1:)
c.767_1202del436
Alternate Protein name
(NP_001104262)
p.(Gln256Leufs*20)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)
g.153296113_153296548del436
Mutation type Frameshift insertion or deletion
Domain TRD
Pathogenicity Mutation associated with disease

View proband information


No: Systematic Name Protein name Gender Phenotype Proband id References View
1 c.731_1166del436 p.Gln244fs Unknown Rett syndrome-Not certain 255 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