Variant information


Systematic Name
(NM_004992.3:)
c.695dupG
Protein name
(NP_004983)
p.Lys233fs
Alternate systematic Name
(NM_001110792.1:)
c.731dupG
Alternate Protein name
(NP_001104262)
p.(Lys245Glnfs*3)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)
g.153296584dupC
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.695dupG p.Lys233fs Female Rett syndrome-not certain 4317 Spectrum of MECP2 mutations in New Zealand Rett syndrome patients:Raizis, A.M., Saleem, M., MacKay, R., George, P.M.:New Zealand Medical Journal: 19652677 View details
2 c.695dupG p.Lys233fs Female Rett syndrome-classical 6635 ::: View details