Proband information
Proband id | 5236 |
---|---|
Systematic Name (NM_004992.3:) |
c.832G>A |
Protein name (NP_004983) |
p.Ala278Thr |
Alternate systematic Name (NM_001110792.1:) |
c.868G>A |
Alternate Protein name (NP_001104262) |
p.(Ala290Thr) |
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.153296447C>T |
Mutation type | missense |
Domain | TRD |
Pathogenicity | Polymorphism not causing disease |
Evidence of Pathogenicity | |
Detection | direct |
Extent | not stated |
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.-unaffected family member |
Reference | Detection of rarely identified multiple mutations in MECP2 gene do not contribute to enhanced severity in Rett syndrome:Chapleau, C.A., Lane, J., Kirwin, S.M., Schanen, C., Vinette, K.M.B., Stubbolo, D., MacLeod, P., Percy, A.K.:American Journal of Medical Genetics: 23696494 |
Matching entries in the proband database
No: | Systematic Name | Protein name | Gender | Carrier result | Phenotype | Proband id | Reference |
---|---|---|---|---|---|---|---|
1 | c.832G>A | p.Ala278Thr | Female | Not Rett synd. | 5236 | Detection of rarely identified multiple mutations in MECP2 gene do not contribute to enhanced severity in Rett syndrome:Chapleau, C.A., Lane, J., Kirwin, S.M., Schanen, C., Vinette, K.M.B., Stubbolo, D., MacLeod, P., Percy, A.K.:American Journal of Medical Genetics: 23696494 |