Proband information
Proband id | 3521 |
---|---|
Systematic Name (NM_004992.3:) |
c.1048_1095del48 |
Protein name (NP_004983) |
p.Ser350_Glu365del |
Alternate systematic Name (NM_001110792.1:) |
c.1084_1131del48 |
Alternate Protein name (NP_001104262) |
p.(Ser362_Glu377del) |
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.153296184_153296231del48 |
Mutation type | in-frame insertion or deletion |
Domain | C-term |
Pathogenicity | Unknown |
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 of MECP2 mutations in Rett syndrome:Bienvenu T, Villard L, de Roux N, Bourdon V, Fontes M, Beldjord C, Tardieu M, Jonveaux P, Chelly J:Genetic testing: 12180070 |
Matching entries in the proband database
No: | Systematic Name | Protein name | Gender | Carrier result | Phenotype | Proband id | Reference |
---|---|---|---|---|---|---|---|
1 | c.1048_1095del48 | p.Ser350_Glu365del | Female | Rett syndrome-not certain | 3521 | Spectrum of MECP2 mutations in Rett syndrome:Bienvenu T, Villard L, de Roux N, Bourdon V, Fontes M, Beldjord C, Tardieu M, Jonveaux P, Chelly J:Genetic testing: 12180070 |