Variant information

Systematic Name
Protein name
Alternate systematic Name
Alternate Protein name
Genomic nomenclature
Mutation type Missense
Domain MBD
Pathogenicity Unknown

View proband information

No: Systematic Name Protein name Gender Phenotype Proband id References View
1 c.291C>A p.Asp97Glu Unknown Rett syndrome-Not certain 865 Mutation screening in Rett syndrome patients:Xiang, Fengqing, Buervenich, Silvia, Nicolao, Piero, Bailey, Mark E. S., Zhang, Zhiping, Anvret, Maria:Journal of Medical Genetics: 10745042 View details
2 c.291C>A p.Asp97Glu Female Rett syndrome-not certain 3083 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 View details