Proband information


Proband id 254
Systematic Name
(NM_004992.3:)
c.439delG
Protein name
(NP_004983)
p.Asp147fs
Alternate systematic Name
(NM_001110792.1:)
c.475delG
Alternate Protein name
(NP_001104262)
p.(Asp159Thrfs*13)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)
g.153296840delC
Mutation type Frameshift insertion or deletion
Domain MBD
Pathogenicity Mutation associated with disease
Evidence of Pathogenicity
Detection
Extent
Source of DNA
Carrier
Carrier result
Other mutations
X-inactivation results
X-inactivation relatives
Gender Unknown
Sporadic/Familial
Phenotype-class Rett syndrome-Not certain
Reference A detailed analysis of the MECP2 gene: prevalence of recurrent mutations and gross DNA rearrangements in Rett syndrome patients:Bourdon, Violaine, Philippe, Christophe, Labrune, Orianne, Amsallem, Daniel, Arnould, CÚcile, Jonveaux, Philippe:Human genetics: 11214906

Matching entries in the proband database


No: Systematic Name Protein name Gender Carrier result Phenotype Proband id Reference
1 c.439delG p.Asp147fs Unknown Rett syndrome-Not certain 254 A detailed analysis of the MECP2 gene: prevalence of recurrent mutations and gross DNA rearrangements in Rett syndrome patients:Bourdon, Violaine, Philippe, Christophe, Labrune, Orianne, Amsallem, Daniel, Arnould, CÚcile, Jonveaux, Philippe:Human genetics: 11214906