Proband information
Proband id | 3019 |
---|---|
Systematic Name (NM_004992.3:) |
c.1415_1416delAG |
Protein name (NP_004983) |
p.Glu472fs |
Alternate systematic Name (NM_001110792.1:) |
c.1451_1452delAG |
Alternate Protein name (NP_001104262) |
p.(Glu484Glyfs*14) |
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.153295863_153295864delCT |
Mutation type | frameshift insertion ord deletion |
Domain | C-term |
Pathogenicity | Mutation associated with disease |
Evidence of Pathogenicity | |
Detection | direct |
Extent | exons 2-4 |
Source of DNA | blood |
Carrier | Y |
Carrier result | de novo |
Other mutations | NK |
X-inactivation results | |
X-inactivation relatives | |
Gender | Male |
Sporadic/Familial | sporadic |
Phenotype-class | Not Rett synd.-X-linked mental retardation |
Reference | De novo MECP2 framshift mutation in a boy with moderate mental retardation, obesity and gynaecomastia:Kleefstra T, Yntema HG, Oudakker AR, Romein T, Sistermans E, Nillessen W, van Bokhoven H, de Vries BBA, Hamel BCJ:Clinical Genetics: 12081720 |
Matching entries in the proband database
No: | Systematic Name | Protein name | Gender | Carrier result | Phenotype | Proband id | Reference |
---|---|---|---|---|---|---|---|
1 | c.1415_1416delAG | p.Glu472fs | Male | de novo | Not Rett synd. | 3019 | De novo MECP2 framshift mutation in a boy with moderate mental retardation, obesity and gynaecomastia:Kleefstra T, Yntema HG, Oudakker AR, Romein T, Sistermans E, Nillessen W, van Bokhoven H, de Vries BBA, Hamel BCJ:Clinical Genetics: 12081720 |