Variant information
Systematic Name (NM_004992.3:) |
c.1154_1197del44 |
---|---|
Protein name (NP_004983) |
p.Pro385fs |
Alternate systematic Name (NM_001110792.1:) |
c.1190_1233del44 |
Alternate Protein name (NP_001104262) |
p.(Pro397Hisfs*5) |
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.153296082_153296125del44 |
Mutation type | Frameshift insertion or deletion |
Domain | C-term |
Pathogenicity | Mutation associated with disease |
View proband information
No: | Systematic Name | Protein name | Gender | Phenotype | Proband id | References | View |
---|---|---|---|---|---|---|---|
1 | c.1154_1197del44 | p.Pro385fs | Unknown | Rett syndrome-Forme fruste | 916 | ::: | View details |
2 | c.1154_1197del44 | p.Pro385fs | Female | Rett syndrome-Classical | 2180 | :Cardiff, UK:: | View details |
3 | c.1154_1197del44 | p.Pro385fs | Female | Rett syndrome-classical | 2829 | Diagnostic mutational analysis of MECP2 in Korean patients with Rett syndrome:Kim, I.-J., Kim, Y.-J., Son, B.-H., Nam, S.-O., Kang, H.-C., Kim, H.-D., Yoo, M.-A., Choi, O.-H., Kim, C.-M.:Experimental and Molecular Medicine: 16672765 | View details |
4 | c.1154_1197del44 | p.Pro385fs | Female | Rett syndrome-classical | 2950 | Screening of MECP2 coding sequence in patients with phenotypes of decreasing likelihood for Rett syndrome; a cohort of 171 cases:Kammoun, F., de Roux, N, Boespflug-Tanguy, O., Vallée, L, seng, R., Tardieu, M., Landrieu, P.:J Med Genet: 15173251 | View details |
5 | c.1154_1197del44 | p.Pro385fs | Female | Rett syndrome-classical | 3009 | MECP2 gene mutation analysis in Chinese patients with Rett syndrome:Pan, H., Wang, Y.-P., Bao, X.-H., Meng, H.-D., Zhang, Y., Wu, X.-R-. Shen, Y.:European Journal of Human Genetics: 12111643 | View details |
6 | c.1154_1197del44 | p.Pro385fs | Female | Rett syndrome-not certain | 3508 | Spectrum of MECP2 mutations in Rett syndrome:Bienvenu T, Villard L, de Roux N, Bourdon V, Fontes M, Beldjord C, Tardieu M, Jonveaux P, Chelly J:Genetic testing: 12180070 | View details |