Proband information


Proband id 3256
Systematic Name
(NM_004992.3:)
c.117dupA
Protein name
(NP_004983)
p.Glu40fs
Alternate systematic Name
(NM_001110792.1:)
c.153dupA
Alternate Protein name
(NP_001104262)
p.(Glu52Argfs*5)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)
g.153297918dupT
Mutation type frameshift insertion or deletion
Domain N-term
Pathogenicity Mutation associated with disease
Evidence of Pathogenicity
Detection SSCP, direct
Extent Exons 2-4
Source of DNA blood
Carrier
Carrier result
Other mutations NK
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial not known
Phenotype-class Rett syndrome-not certain
Reference Spectrum and distribution of MECP2 mutations in 424 Rett syndrome patients: a molecular update:Philippe C, Villard L, de Roux N, Raynaud M, Bonnefond JP, Pasquier L, Lesca G, Mancini J, Jonveaux P, Moncla A, Chelly J, Bienvenu T:European Journal of Medical Genetics: 16473305

Matching entries in the proband database


No: Systematic Name Protein name Gender Carrier result Phenotype Proband id Reference
1 c.117dupA p.Glu40fs Female Rett syndrome-not certain 3256 Spectrum and distribution of MECP2 mutations in 424 Rett syndrome patients: a molecular update:Philippe C, Villard L, de Roux N, Raynaud M, Bonnefond JP, Pasquier L, Lesca G, Mancini J, Jonveaux P, Moncla A, Chelly J, Bienvenu T:European Journal of Medical Genetics: 16473305