Proband information
Proband id | 4044 |
---|---|
Systematic Name (NM_004992.3:) |
c.439G>A |
Protein name (NP_004983) |
p.Asp147Asn |
Alternate systematic Name (NM_001110792.1:) |
c.475G>A |
Alternate Protein name (NP_001104262) |
p.(Asp159Asn) |
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.153296840C>T |
Mutation type | missense |
Domain | MBD |
Pathogenicity | Polymorphism not causing disease |
Evidence of Pathogenicity | |
Detection | direct |
Extent | exons 2-4 |
Source of DNA | blood |
Carrier | Y |
Carrier result | in daughter with RTT who has another mutation |
Other mutations | NK |
X-inactivation results | |
X-inactivation relatives | |
Gender | Female |
Sporadic/Familial | familial |
Phenotype-class | Not Rett synd.-unaffected family member |
Reference | Gross rearrangements in the MECP2 gene in three patients with Rett syndrome: Implications for routine diagnosis of Rett syndrome:Schollen, E., Smeets, E., Deflem, E., Fryns, J.P., Matthijs, G.:Human Mutation: 12872251 |
Matching entries in the proband database
No: | Systematic Name | Protein name | Gender | Carrier result | Phenotype | Proband id | Reference |
---|---|---|---|---|---|---|---|
1 | c.439G>A | p.Asp147Asn | Female | in daughter with RTT who has another mutation | Not Rett synd. | 4044 | Gross rearrangements in the MECP2 gene in three patients with Rett syndrome: Implications for routine diagnosis of Rett syndrome:Schollen, E., Smeets, E., Deflem, E., Fryns, J.P., Matthijs, G.:Human Mutation: 12872251 |