Variant information


Systematic Name c.[1451G>C];[*98dupA]
Protein name p.[Arg484Thr];[=]
Mutation type missense, 3'UTR
Domain C-term, 3'UTR
Pathogenicity Polymorphism not causing disease

Proband information


Source of DNA blood
Detection direct
Extent exons 2-4
Number of chromosomes checked 100 chromosomes tested and not found in 100 chromosomes
Carrier status checked Yes
Carrier result "R484T from father, c.1461+98dupA from mother"
Other mutations NK
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial sporadic
Phenotype-class Rett syndrome-classical
Reference 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

Matching entries in the proband database


No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id References
1 c.[1451G>C];[*98dupA] p.[Arg484Thr];[=] missense, 3'UTR C-term, 3'UTR Polymorphism not causing disease 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