Variant information


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

Proband information


Source of DNA blood
Detection direct
Extent coding sequence
Number of chromosomes checked 314 chromosomes tested and not found in 314 chromosomes
Carrier status checked N
Carrier result
Other mutations Y
X-inactivation results
X-inactivation relatives
Gender Male
Sporadic/Familial sporadic
Phenotype-class Not Rett synd.-autism
Reference 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

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