Variant information


Systematic Name
(NM_004992.3:)
c.747_751dup5
Protein name
(NP_004983)
p.Pro251fs
Alternate systematic Name
(NM_001110792.1:)
c.783_787dup5
Alternate Protein name
(NP_001104262)
p.(Pro263Hisfs*40)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)
g.153296528_153296532dup5
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.747_751dup5 p.Pro251fs Unknown Rett syndrome-Not certain 256 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