Proband information
Proband id | 44 |
---|---|
Systematic Name (NM_004992.3:) |
c.1454_1457del4 |
Protein name (NP_004983) |
p.Val485fs |
Alternate systematic Name (NM_001110792.1:) |
c.1490_1493del4 |
Alternate Protein name (NP_001104262) |
p.(Val497Alafs*26) |
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.153295822_153295825del4 |
Mutation type | Frameshift insertion or deletion |
Domain | C-term |
Pathogenicity | Unknown |
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.1454_1457del4 | p.Val485fs | Female | Rett syndrome-Not certain | 44 | 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.1454_1457del4 | p.Val485fs | Female | Rett syndrome-not certain | 3324 | Spectrum and distribution of MECP2 mutations in 424 Rett syndrome patients: a molecular update:Philippe C, Villard L, de Roux N, Raynaud M, Bonnefond JP, Pasquier L, Lesca G, Mancini J, Jonveaux P, Moncla A, Chelly J, Bienvenu T:European Journal of Medical Genetics: 16473305 |