Proband information
Proband id | 31 |
---|---|
Systematic Name (NM_004992.3:) |
c.730C>T |
Protein name (NP_004983) |
p.Gln244* |
Alternate systematic Name (NM_001110792.1:) |
c.766C>T |
Alternate Protein name (NP_001104262) |
p.(Gln256*) |
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.153296549G>A |
Mutation type | Nonsense |
Domain | TRD |
Pathogenicity | Mutation associated with disease |
Evidence of Pathogenicity | |
Detection | |
Extent | |
Source of DNA | |
Carrier | |
Carrier result | |
Other mutations | |
X-inactivation results | |
X-inactivation relatives | |
Gender | Female |
Sporadic/Familial | |
Phenotype-class | Rett syndrome-Not certain |
Reference | MeCP2 mutations in children with and without the phenotype of Rett Syndrome:Hoffbuhr, K., Devaney, J. M., LaFleur, B., Sirianni, N., Scacheri, C., Giron, J., Schuette, J., Innis, J., Marino, M., Philippart, M., Narayanan, V., Umansky, R., Kronn, D., Hoffman, E. P., and Naidu, S.:Neurology: 11402105 |
Matching entries in the proband database
No: | Systematic Name | Protein name | Gender | Carrier result | Phenotype | Proband id | Reference |
---|---|---|---|---|---|---|---|
1 | c.730C>T | p.Gln244* | Female | Rett syndrome-Not certain | 31 | MeCP2 mutations in children with and without the phenotype of Rett Syndrome:Hoffbuhr, K., Devaney, J. M., LaFleur, B., Sirianni, N., Scacheri, C., Giron, J., Schuette, J., Innis, J., Marino, M., Philippart, M., Narayanan, V., Umansky, R., Kronn, D., Hoffman, E. P., and Naidu, S.:Neurology: 11402105 | |
2 | c.730C>T | p.Gln244* | Female | Rett syndrome-Classical | 2192 | :Cardiff, UK:: | |
3 | c.730C>T | p.Gln244* | Female | Rett syndrome-Classical | 2193 | :Cardiff, UK:: | |
4 | c.730C>T | p.Gln244* | Female | Rett syndrome-classical | 6583 | ::: |