Variant information

Systematic Name
Protein name
Alternate systematic Name
Alternate Protein name
Genomic nomenclature
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