Variant information


Systematic Name
(NM_004992.3:)		 c.1415_1416delAG
Protein name
(NP_004983)		 p.Glu472fs
Alternate systematic Name
(NM_001110792.1:)		 c.1451_1452delAG
Alternate Protein name
(NP_001104262)		 p.(Glu484Glyfs*14)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.153295863_153295864delCT
Mutation type frameshift insertion ord 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.1415_1416delAG p.Glu472fs Male Not Rett synd. 3019 De novo MECP2 framshift mutation in a boy with moderate mental retardation, obesity and gynaecomastia:Kleefstra T, Yntema HG, Oudakker AR, Romein T, Sistermans E, Nillessen W, van Bokhoven H, de Vries BBA, Hamel BCJ:Clinical Genetics: 12081720 View details