Proband information
Proband id | 1571 |
---|---|
Systematic Name (NM_004992.3:) |
c.[1126C>T];[1126C>T] |
Protein name (NP_004983) |
p.[Pro376Ser];[Pro376Ser] |
Alternate systematic Name (NM_001110792.1:) |
|
Alternate Protein name (NP_001104262) |
|
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
|
Mutation type | Missense |
Domain | C-term |
Pathogenicity | Polymorphism not causing disease |
Evidence of Pathogenicity | |
Detection | direct |
Extent | Fragment containing mutation found in relative |
Source of DNA | Blood |
Carrier | NA |
Carrier result | Relative of proband |
Other mutations | N |
X-inactivation results | |
X-inactivation relatives | |
Gender | Female |
Sporadic/Familial | Sporadic |
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.[1126C>T];[1126C>T] | p.[Pro376Ser];[Pro376Ser] | Female | Relative of proband | Not Rett synd. | 1571 | 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 |