Proband information


Proband id 259
Systematic Name
(NM_004992.3:)		 c.1158_1200del43
Protein name
(NP_004983)		 p.Pro387fs
Alternate systematic Name
(NM_001110792.1:)		 c.1194_1236del43
Alternate Protein name
(NP_001104262)		 p.(Pro399Alafs*8)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.153296079_153296121del43
Mutation type Frameshift insertion or deletion
Domain C-term
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, Cécile, 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.1158_1200del43 p.Pro387fs Unknown Rett syndrome-Not certain 259 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, Cécile, Jonveaux, Philippe:Human genetics: 11214906
2 c.1158_1200del43 p.Pro387fs Female Rett syndrome-not certain 3310 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