Proband information

Proband id 2058
Systematic Name
Protein name
Alternate systematic Name
Alternate Protein name
Genomic nomenclature
Mutation type Missense
Domain MBD
Pathogenicity Unknown
Evidence of Pathogenicity
Detection direct
Extent Exons 2-4
Source of DNA Not Known
Carrier N
Carrier result
Other mutations N
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial Not known
Phenotype-class Not Known
Reference :::

Matching entries in the proband database

No: Systematic Name Protein name Gender Carrier result Phenotype Proband id Reference
1 c.479C>G p.Thr160Ser Female Not Known 2058 :::
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