Variant information


Systematic Name
(NM_004992.3:)		 c.832G>A
Protein name
(NP_004983)		 p.Ala278Thr
Alternate systematic Name
(NM_001110792.1:)		 c.868G>A
Alternate Protein name
(NP_001104262)		 p.(Ala290Thr)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.153296447C>T
Mutation type missense
Domain TRD
Pathogenicity Polymorphism not causing disease

View proband information


No: Systematic Name Protein name Gender Phenotype Proband id References View
1 c.832G>A p.Ala278Thr Female Not Rett synd. 5236 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