Variant information


Systematic Name
(NM_004992.3:)		 c.1189G>T
Protein name
(NP_004983)		 p.Glu397*
Alternate systematic Name
(NM_001110792.1:)		 c.1225G>T
Alternate Protein name
(NP_001104262)		 p.(Glu409*)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.153296090C>A
Mutation type nonsense
Domain C-term
Pathogenicity Mutation associated with disease

View proband information


No: Systematic Name Protein name Gender Phenotype Proband id References View
1 c.1189G>T p.Glu397* Female Rett syndrome-not certain 4313 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