Proband information
Proband id | 4391 |
---|---|
Systematic Name (NM_004992.3:) |
c.603G>A |
Protein name (NP_004983) |
p.Ala201Ala |
Alternate systematic Name (NM_001110792.1:) |
c.639G>A |
Alternate Protein name (NP_001104262) |
p.(=) |
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.153296676C>T |
Mutation type | silent |
Domain | inter-domain region |
Pathogenicity | Silent polymorphism |
Evidence of Pathogenicity | 100 chromosomes tested and not found in 99 chromosomes |
Detection | direct |
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 | |
Phenotype-class | Not Rett synd.-normal control |
Reference | Identification and characterization of novel sequence variations in MECP2 gene in Rett syndrome patients:Monnerat, L.S., Moreira, A.D.S., Alves,M.C.V., Bonvicino, C.R., Vargas, F.R.:Brain & Development: 20031356 |
Matching entries in the proband database
No: | Systematic Name | Protein name | Gender | Carrier result | Phenotype | Proband id | Reference |
---|---|---|---|---|---|---|---|
1 | c.603G>A | p.Ala201Ala | Female | Not Rett synd. | 4391 | Identification and characterization of novel sequence variations in MECP2 gene in Rett syndrome patients:Monnerat, L.S., Moreira, A.D.S., Alves,M.C.V., Bonvicino, C.R., Vargas, F.R.:Brain & Development: 20031356 |