Proband information


Proband id 3035
Systematic Name
(NM_004992.3:)		 c.140dupA
Protein name
(NP_004983)		 p.Pro48fs
Alternate systematic Name
(NM_001110792.1:)		 c.176dupA
Alternate Protein name
(NP_001104262)		 p.(Pro60Alafs*8)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.153297895dupT
Mutation type frameshift insertion or deletion
Domain N-term
Pathogenicity Mutation associated with disease
Evidence of Pathogenicity
Detection direct
Extent exons 2-4
Source of DNA blood
Carrier Y
Carrier result de novo
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 Gender Carrier result Phenotype Proband id Reference
1 c.140dupA p.Pro48fs Female de novo Rett syndrome-classical 3035 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