Proband information


Proband id 4796
Systematic Name
(NM_004992.3:)		 c.479C>G
Protein name
(NP_004983)		 p.Thr160Ser
Alternate systematic Name
(NM_001110792.1:)		 c.515C>G
Alternate Protein name
(NP_001104262)		 p.(Thr172Ser)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.153296800G>C
Mutation type missense
Domain MBD
Pathogenicity Unknown
Evidence of Pathogenicity 314 chromosomes tested and not found in 314 chromosomes
Detection direct
Extent coding sequence
Source of DNA blood
Carrier 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-Rebouças, C.B., Pimentel, M.M.G.:Brain & Development: 21600714

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-Rebouças, C.B., Pimentel, M.M.G.:Brain & Development: 21600714