Proband information


Proband id 4047
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
Evidence of Pathogenicity 100 chromosomes tested and not found in 100 chromosomes
Detection direct
Extent exons 2-4
Source of DNA blood
Carrier
Carrier result
Other mutations NK
X-inactivation results
X-inactivation relatives
Gender Male
Sporadic/Familial familial
Phenotype-class Not Rett synd.-unaffected family member
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 Gender Carrier result Phenotype Proband id Reference
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