Variant information


Systematic Name
(NM_004992.3:)		 c.[502C>T;880C>T]
Protein name
(NP_004983)		 p.Arg168*
Alternate systematic Name
(NM_001110792.1:)		 c.[538C>T;916C>T]
Alternate Protein name
(NP_001104262)		 p.?
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.[153296777G>A;153296399G>A]
Mutation type nonsense
Domain inter-domain region, TRD
Pathogenicity Mutation associated with disease

View proband information


No: Systematic Name Protein name Gender Phenotype Proband id References View
1 c.[502C>T;880C>T] p.Arg168* Female Rett syndrome-not certain 5242 Detection of rarely identified multiple mutations in MECP2 gene do not contribute to enhanced severity in Rett syndrome:Chapleau, C.A., Lane, J., Kirwin, S.M., Schanen, C., Vinette, K.M.B., Stubbolo, D., MacLeod, P., Percy, A.K.:American Journal of Medical Genetics: 23696494 View details