Variant information


Systematic Name c.291C>A
Protein name p.Asp97Glu
Mutation type missense
Domain MBD
Pathogenicity Unknown

Proband information


Source of DNA blood
Detection SSCP, direct
Extent Exons 2-4
Number of chromosomes checked
Carrier status checked
Carrier result
Other mutations NK
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial not known
Phenotype-class Rett syndrome-not certain
Reference 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

Matching entries in the proband database


No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id References
1 c.291C>A p.Asp97Glu Missense MBD Unknown 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
2 c.291C>A p.Asp97Glu missense MBD Unknown 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