Proband information
Proband id | 5235 |
---|---|
Systematic Name (NM_004992.3:) |
c.[502C>T;1180G>A];[832G>A] |
Protein name (NP_004983) |
p.[Arg168*];[Ala278Thr] |
Alternate systematic Name (NM_001110792.1:) |
|
Alternate Protein name (NP_001104262) |
|
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
|
Mutation type | nonsense, missense |
Domain | inter-domain region, TRD, C-term |
Pathogenicity | Mutation associated with disease |
Evidence of Pathogenicity | |
Detection | direct |
Extent | not stated |
Source of DNA | blood |
Carrier | Y |
Carrier result | father hemizygous for p.E394K, mother carrier of p.A278T, p.R168X de novo |
Other mutations | Y |
X-inactivation results | |
X-inactivation relatives | |
Gender | Female |
Sporadic/Familial | sporadic |
Phenotype-class | Rett syndrome-not certain |
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.[502C>T;1180G>A];[832G>A] | p.[Arg168*];[Ala278Thr] | Female | father hemizygous for p.E394K, mother carrier of p.A278T, p.R168X de novo | Rett syndrome-not certain | 5235 | 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 |