Variant information


Systematic Name
(NM_004992.3:)		 c.[1451G>C];[*98dupA]
Protein name
(NP_004983)		 p.[Arg484Thr];[=]
Alternate systematic Name
(NM_001110792.1:)
Alternate Protein name
(NP_001104262)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)
Mutation type missense, 3'UTR
Domain C-term, 3'UTR
Pathogenicity Polymorphism not causing disease

View proband information


No: Systematic Name Protein name Gender Phenotype Proband id References View
1 c.[1451G>C];[*98dupA] p.[Arg484Thr];[=] Female Rett syndrome-classical 3048 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