Proband information
Proband id | 2554 |
---|---|
Systematic Name (NM_004992.3:) |
c.-146_-138dup9 |
Protein name (NP_004983) |
p.(=) |
Alternate systematic Name (NM_001110792.1:) |
c.15_23dup9 |
Alternate Protein name (NP_001104262) |
p.(Ala6_Ala8dup) |
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.153363100_153363108dup9 |
Mutation type | in-frame insertion or deletion |
Domain | N-term |
Pathogenicity | Unknown |
Evidence of Pathogenicity | 709 chromosomes tested and not found in 709 chromosomes |
Detection | DHPLC |
Extent | Exon 1 |
Source of DNA | not specified |
Carrier | N |
Carrier result | |
Other mutations | NK |
X-inactivation results | |
X-inactivation relatives | |
Gender | Female |
Sporadic/Familial | not known |
Phenotype-class | Not Rett synd.-non-specific mental retardation |
Reference | Sequence variants within exon 1 of MECP2 occur in females with mental retardation:Harvey, C.G., Menon, S.D., Stachowiak, B., Noor, A., Proctor, A., Mensah, A.K. Mnatzakanian, G.N., Alfred, S.E., Guo, R., Scherer, S.W., Kennedy, J.L., Roberts, W., Srivistava, A.K., Minassian, B.A., Vincent, J.B.:American Journal of Medical Genetics Part B (Neuropsychiatric Genetics): 17171659 |
Matching entries in the proband database
No: | Systematic Name | Protein name | Gender | Carrier result | Phenotype | Proband id | Reference |
---|---|---|---|---|---|---|---|
1 | c.-146_-138dup9 | p.(=) | Female | Not Rett synd. | 2554 | Sequence variants within exon 1 of MECP2 occur in females with mental retardation:Harvey, C.G., Menon, S.D., Stachowiak, B., Noor, A., Proctor, A., Mensah, A.K. Mnatzakanian, G.N., Alfred, S.E., Guo, R., Scherer, S.W., Kennedy, J.L., Roberts, W., Srivistava, A.K., Minassian, B.A., Vincent, J.B.:American Journal of Medical Genetics Part B (Neuropsychiatric Genetics): 17171659 | |
2 | c.-146_-138dup9 | p.(=) | Female | Not Rett synd. | 2555 | Sequence variants within exon 1 of MECP2 occur in females with mental retardation:Harvey, C.G., Menon, S.D., Stachowiak, B., Noor, A., Proctor, A., Mensah, A.K. Mnatzakanian, G.N., Alfred, S.E., Guo, R., Scherer, S.W., Kennedy, J.L., Roberts, W., Srivistava, A.K., Minassian, B.A., Vincent, J.B.:American Journal of Medical Genetics Part B (Neuropsychiatric Genetics): 17171659 |