Variant information


Systematic Name c.479C>G
Protein name p.Thr160Ser
Mutation type Missense
Domain MBD
Pathogenicity Unknown

Proband information


Source of DNA Not Known
Detection direct
Extent Exons 2-4
Number of chromosomes checked
Carrier status checked 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 Mutation type Domain Pathogenicity Gender Phenotype Proband id References
1 c.479C>G p.Thr160Ser Missense MBD Unknown Female Not Known 2058 :::
2 c.479C>G p.Thr160Ser missense MBD Unknown 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