Proband information
Proband id | 3412 |
---|---|
Systematic Name (NM_004992.3:) |
c.470_471delTC |
Protein name (NP_004983) |
p.Phe157fs |
Alternate systematic Name (NM_001110792.1:) |
c.506_507delTC |
Alternate Protein name (NP_001104262) |
p.(Phe169Tyrfs*17) |
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.153296808_153296809delGA |
Mutation type | frameshift insertion or deletion |
Domain | MBD |
Pathogenicity | Mutation associated with disease |
Evidence of Pathogenicity | |
Detection | DGGE |
Extent | exons2-4 |
Source of DNA | blood |
Carrier | |
Carrier result | |
Other mutations | N |
X-inactivation results | |
X-inactivation relatives | |
Gender | Female |
Sporadic/Familial | sporadic |
Phenotype-class | Rett syndrome-preserved speech |
Reference | Mutation analysis of the methyl-CpG-biding protein 2 gene (MECP2) in Rett patients with preserved speech:Yamashita Y, Kondo I, Fukuda T, Morishima R, Kusaga A, Iwanaga R, Matsuishi T:Brain & Development: 11738864 |
Matching entries in the proband database
No: | Systematic Name | Protein name | Gender | Carrier result | Phenotype | Proband id | Reference |
---|---|---|---|---|---|---|---|
1 | c.470_471delTC | p.Phe157fs | Female | Rett syndrome-preserved speech | 3412 | Mutation analysis of the methyl-CpG-biding protein 2 gene (MECP2) in Rett patients with preserved speech:Yamashita Y, Kondo I, Fukuda T, Morishima R, Kusaga A, Iwanaga R, Matsuishi T:Brain & Development: 11738864 |