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.479C>G p.Thr160Ser Female Not Known 2058 ::: View details
2 c.479C>G p.Thr160Ser Male Not Rett synd. 4796 A MECP2 missense mutation within the MBD domain in a Brazilian male with autistic disorder:Campos, M., Jr, Pestana, C.P., dos Santos, A.V., Ponchel, F., Churchman, S., Abdalla-Carvalho, C.B., dos Santos, J.M., dos Santos, F.L., Gikovate, C.G., Santos-Reboušas, C.B., Pimentel, M.M.G.:Brain & Development: 21600714 View details