Proband information
Proband id | 1572 |
---|---|
Systematic Name (NM_004992.3:) |
c.1137C>T |
Protein name (NP_004983) |
p.Pro379Pro |
Alternate systematic Name (NM_001110792.1:) |
c.1173C>T |
Alternate Protein name (NP_001104262) |
p.(=) |
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.153296142G>A |
Mutation type | Silent |
Domain | C-term |
Pathogenicity | Silent polymorphism |
Evidence of Pathogenicity | |
Detection | dhplc |
Extent | Exons 2-4 |
Source of DNA | Blood |
Carrier | N |
Carrier result | |
Other mutations | N |
X-inactivation results | |
X-inactivation relatives | |
Gender | Female |
Sporadic/Familial | Familial |
Phenotype-class | Not Rett synd.-autism only |
Reference | Mutation analysis of the coding sequence of the MECP2 gene in infantile autism:Beyer, Kim S., Blasi, Francesca, Bacchelli, Elena, Klauck, Sabine M., Maestrini, Elena, Poustka, Annemarie, International Molecular Genetic Study of Autism Consortium (IMGSAC):Human genetics: 12384770 |
Matching entries in the proband database
No: | Systematic Name | Protein name | Gender | Carrier result | Phenotype | Proband id | Reference |
---|---|---|---|---|---|---|---|
1 | c.1137C>T | p.Pro379Pro | Female | Not Rett synd. | 1572 | Mutation analysis of the coding sequence of the MECP2 gene in infantile autism:Beyer, Kim S., Blasi, Francesca, Bacchelli, Elena, Klauck, Sabine M., Maestrini, Elena, Poustka, Annemarie, International Molecular Genetic Study of Autism Consortium (IMGSAC):Human genetics: 12384770 |