Variant information


Systematic Name
(NM_004992.3:)		 c.1451G>C
Protein name
(NP_004983)		 p.Arg484Thr
Alternate systematic Name
(NM_001110792.1:)		 c.1487G>C
Alternate Protein name
(NP_001104262)		 p.(Arg496Thr)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.153295828C>G
Mutation type missense
Domain C-term
Pathogenicity Polymorphism not causing disease

View proband information


No: Systematic Name Protein name Gender Phenotype Proband id References View
1 c.1451G>C p.Arg484Thr Male Not Rett synd. 4047 MECP2 mutations in Israel: implications for molecular analysis, genetic counseling, and prenatal diagnosis in Rett syndrome:Yaron Y, Ben Zeev B, Shomrat R, Bercovich D, Naiman T, Orr-Urtreger A:Human Mutation: 12325033 View details