Proband information
Proband id | 3937 |
---|---|
Systematic Name (NM_004992.3:) |
c.514C>T |
Protein name (NP_004983) |
p.Pro172Ser |
Alternate systematic Name (NM_001110792.1:) |
c.550C>T |
Alternate Protein name (NP_001104262) |
p.(Pro184Ser) |
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.153296765G>A |
Mutation type | missense |
Domain | inter-domain region |
Pathogenicity | Unknown |
Evidence of Pathogenicity | |
Detection | direct |
Extent | exons1, 3-4 |
Source of DNA | blood |
Carrier | Y |
Carrier result | son with autism |
Other mutations | NK |
X-inactivation results | |
X-inactivation relatives | |
Gender | Female |
Sporadic/Familial | not known |
Phenotype-class | Not Rett synd.-unaffected family member |
Reference | Low significance of MECP2 mutations as a cause of mental retardation in Brazilian males:Campos, M. Jr, Abdalla, C.B., Santos-Rebouças, C.B., dos Santos, A.V., Pestana, C.P., Domingues, M.L., dos Santos, J.M., Pimentel, M.M.G.:Brain & Development: 17084570 |
Matching entries in the proband database
No: | Systematic Name | Protein name | Gender | Carrier result | Phenotype | Proband id | Reference |
---|---|---|---|---|---|---|---|
1 | c.514C>T | p.Pro172Ser | Male | mother asymptomatic carrier | Not Rett synd. | 2746 | Low significance of MECP2 mutations as a cause of mental retardation in Brazilian males:Campos, M. Jr, Abdalla, C.B., Santos-Rebouças, C.B., dos Santos, A.V., Pestana, C.P., Domingues, M.L., dos Santos, J.M., Pimentel, M.M.G.:Brain & Development: 17084570 |
2 | c.514C>T | p.Pro172Ser | Female | son with autism | Not Rett synd. | 3937 | Low significance of MECP2 mutations as a cause of mental retardation in Brazilian males:Campos, M. Jr, Abdalla, C.B., Santos-Rebouças, C.B., dos Santos, A.V., Pestana, C.P., Domingues, M.L., dos Santos, J.M., Pimentel, M.M.G.:Brain & Development: 17084570 |