Proband information
Proband id | 1201 |
---|---|
Systematic Name (NM_004992.3:) |
c.345delC |
Protein name (NP_004983) |
p.Ser116fs |
Alternate systematic Name (NM_001110792.1:) |
c.381delC |
Alternate Protein name (NP_001104262) |
p.(Ser128Leufs*9) |
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.153297690delG |
Mutation type | Frameshift insertion or deletion |
Domain | MBD |
Pathogenicity | Mutation associated with disease |
Evidence of Pathogenicity | 100 chromosomes tested and not found in 100 chromosomes |
Detection | DGGE |
Extent | Exons 2-4 |
Source of DNA | Blood |
Carrier | Y |
Carrier result | Mother does not have variation |
Other mutations | NK |
X-inactivation results | |
X-inactivation relatives | |
Gender | Female |
Sporadic/Familial | Not known |
Phenotype-class | Rett syndrome-Classical |
Reference | Five novel frameshift mutations in exon 3 and 4 of the MECP2 gene identified in Rett patients: consequences for the molecular diagnosis strategy:Bienvenu, Thierry, Souville, Isabelle, Poirier, Karine, Aquaviva, Cécile, Burglen, Lydie, Amiel, Jeanne, Héron, Bénédicte, Kaminska, Anaa, Couvert, Philippe, Beldjord, Cherif and Chelly, Jamel:Human mutation: 11524737 |
Matching entries in the proband database
No: | Systematic Name | Protein name | Gender | Carrier result | Phenotype | Proband id | Reference |
---|---|---|---|---|---|---|---|
1 | c.345delC | p.Ser116fs | Female | Mother does not have variation | Rett syndrome-Classical | 1201 | Five novel frameshift mutations in exon 3 and 4 of the MECP2 gene identified in Rett patients: consequences for the molecular diagnosis strategy:Bienvenu, Thierry, Souville, Isabelle, Poirier, Karine, Aquaviva, Cécile, Burglen, Lydie, Amiel, Jeanne, Héron, Bénédicte, Kaminska, Anaa, Couvert, Philippe, Beldjord, Cherif and Chelly, Jamel:Human mutation: 11524737 |