Proband information
Proband id | 5237 |
---|---|
Systematic Name (NM_004992.3:) |
c.1180G>A |
Protein name (NP_004983) |
p.Glu394Lys |
Alternate systematic Name (NM_001110792.1:) |
c.1216G>A |
Alternate Protein name (NP_001104262) |
p.(Glu406Lys) |
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.153296099C>T |
Mutation type | missense |
Domain | C-term |
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 | Male |
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.1180G>A | p.Glu394Lys | Male | found in healthy grandfather and mother carrier | Not Rett synd. | 3033 | Low frequency of MECP2 mutations in mentally retarded males:Yntema HG, Kleefstra T, Oudakker AR, Romein T, de Vries BBA, Nillesen W, Sistermans EA, Brunner HG, Hamel BCJ, van Bokhoven H:European Journal of Human Genetics: 12111644 |
2 | c.1180G>A | p.Glu394Lys | Male | Not Rett synd. | 4058 | Low frequency of MECP2 mutations in mentally retarded males:Yntema HG, Kleefstra T, Oudakker AR, Romein T, de Vries BBA, Nillesen W, Sistermans EA, Brunner HG, Hamel BCJ, van Bokhoven H:European Journal of Human Genetics: 12111644 | |
3 | c.1180G>A | p.Glu394Lys | Female | Not Rett synd. | 4059 | Low frequency of MECP2 mutations in mentally retarded males:Yntema HG, Kleefstra T, Oudakker AR, Romein T, de Vries BBA, Nillesen W, Sistermans EA, Brunner HG, Hamel BCJ, van Bokhoven H:European Journal of Human Genetics: 12111644 | |
4 | c.1180G>A | p.Glu394Lys | Male | Not Rett synd. | 5237 | 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 |